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href="https://bs.wikipedia.org/wiki/XXXX_sindrom" title="XXXX sindrom – Bosnian" lang="bs" hreflang="bs" data-title="XXXX sindrom" data-language-autonym="Bosanski" data-language-local-name="Bosnian" class="interlanguage-link-target"><span>Bosanski</span></a></li><li class="interlanguage-link interwiki-el mw-list-item"><a href="https://el.wikipedia.org/wiki/%CE%A4%CE%B5%CF%84%CF%81%CE%B1%CF%83%CF%89%CE%BC%CE%AF%CE%B1_%CE%A7" title="Τετρασωμία Χ – Greek" lang="el" hreflang="el" data-title="Τετρασωμία Χ" data-language-autonym="Ελληνικά" data-language-local-name="Greek" class="interlanguage-link-target"><span>Ελληνικά</span></a></li><li class="interlanguage-link interwiki-es mw-list-item"><a href="https://es.wikipedia.org/wiki/S%C3%ADndrome_XXXX" title="Síndrome XXXX – Spanish" lang="es" hreflang="es" data-title="Síndrome XXXX" data-language-autonym="Español" data-language-local-name="Spanish" class="interlanguage-link-target"><span>Español</span></a></li><li class="interlanguage-link interwiki-fr mw-list-item"><a href="https://fr.wikipedia.org/wiki/T%C3%A9trasomie_X" title="Tétrasomie X – French" lang="fr" hreflang="fr" data-title="Tétrasomie X" data-language-autonym="Français" data-language-local-name="French" class="interlanguage-link-target"><span>Français</span></a></li><li class="interlanguage-link interwiki-ko mw-list-item"><a href="https://ko.wikipedia.org/wiki/XXXX_%EC%A6%9D%ED%9B%84%EA%B5%B0" title="XXXX 증후군 – Korean" lang="ko" hreflang="ko" data-title="XXXX 증후군" data-language-autonym="한국어" data-language-local-name="Korean" class="interlanguage-link-target"><span>한국어</span></a></li><li class="interlanguage-link interwiki-id mw-list-item"><a href="https://id.wikipedia.org/wiki/Sindrom_Empat_X" title="Sindrom Empat X – Indonesian" lang="id" hreflang="id" data-title="Sindrom Empat X" data-language-autonym="Bahasa Indonesia" data-language-local-name="Indonesian" class="interlanguage-link-target"><span>Bahasa Indonesia</span></a></li><li class="interlanguage-link interwiki-it mw-list-item"><a href="https://it.wikipedia.org/wiki/Sindrome_della_quadrupla_X" title="Sindrome della quadrupla X – Italian" lang="it" hreflang="it" data-title="Sindrome della quadrupla X" data-language-autonym="Italiano" data-language-local-name="Italian" class="interlanguage-link-target"><span>Italiano</span></a></li><li class="interlanguage-link interwiki-pl mw-list-item"><a href="https://pl.wikipedia.org/wiki/Tetrasomia_chromosomu_X" title="Tetrasomia chromosomu X – Polish" lang="pl" hreflang="pl" data-title="Tetrasomia chromosomu X" data-language-autonym="Polski" data-language-local-name="Polish" class="interlanguage-link-target"><span>Polski</span></a></li><li class="interlanguage-link interwiki-pt mw-list-item"><a href="https://pt.wikipedia.org/wiki/S%C3%ADndrome_XXXX" title="Síndrome XXXX – Portuguese" lang="pt" hreflang="pt" data-title="Síndrome XXXX" data-language-autonym="Português" data-language-local-name="Portuguese" 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Click here for more information." src="//upload.wikimedia.org/wikipedia/en/thumb/9/94/Symbol_support_vote.svg/19px-Symbol_support_vote.svg.png" decoding="async" width="19" height="20" class="mw-file-element" srcset="//upload.wikimedia.org/wikipedia/en/thumb/9/94/Symbol_support_vote.svg/29px-Symbol_support_vote.svg.png 1.5x, //upload.wikimedia.org/wikipedia/en/thumb/9/94/Symbol_support_vote.svg/39px-Symbol_support_vote.svg.png 2x" data-file-width="180" data-file-height="185" /></a></span></div></div> </div> <div id="siteSub" class="noprint">From Wikipedia, the free encyclopedia</div> </div> <div id="contentSub"><div id="mw-content-subtitle"></div></div> <div id="mw-content-text" class="mw-body-content"><div class="mw-content-ltr mw-parser-output" lang="en" dir="ltr"><div class="shortdescription nomobile noexcerpt noprint searchaux" style="display:none">Chromosomal disorder with 4 X chromosomes</div> <p class="mw-empty-elt"> </p> <div class="shortdescription nomobile noexcerpt noprint searchaux" style="display:none">Medical condition</div><style data-mw-deduplicate="TemplateStyles:r1257001546">.mw-parser-output .infobox-subbox{padding:0;border:none;margin:-3px;width:auto;min-width:100%;font-size:100%;clear:none;float:none;background-color:transparent}.mw-parser-output .infobox-3cols-child{margin:auto}.mw-parser-output .infobox .navbar{font-size:100%}@media screen{html.skin-theme-clientpref-night .mw-parser-output .infobox-full-data:not(.notheme)>div:not(.notheme)[style]{background:#1f1f23!important;color:#f8f9fa}}@media screen and (prefers-color-scheme:dark){html.skin-theme-clientpref-os .mw-parser-output .infobox-full-data:not(.notheme) div:not(.notheme){background:#1f1f23!important;color:#f8f9fa}}@media(min-width:640px){body.skin--responsive .mw-parser-output .infobox-table{display:table!important}body.skin--responsive .mw-parser-output .infobox-table>caption{display:table-caption!important}body.skin--responsive .mw-parser-output .infobox-table>tbody{display:table-row-group}body.skin--responsive .mw-parser-output .infobox-table tr{display:table-row!important}body.skin--responsive .mw-parser-output .infobox-table th,body.skin--responsive .mw-parser-output .infobox-table td{padding-left:inherit;padding-right:inherit}}</style><table class="infobox ib-medical-condition"><tbody><tr><th colspan="2" class="infobox-above" style="background:#ccc">Tetrasomy X</th></tr><tr><th scope="row" class="infobox-label">Other names</th><td class="infobox-data">48,XXXX</td></tr><tr style="background-color: #f8f9fa;"><td colspan="2" class="infobox-full-data"><span class="mw-default-size" typeof="mw:File/Frameless"><a href="/wiki/File:G-banded-chromosomal-analysis-showing-48-XXXX.jpg" class="mw-file-description"><img alt="A karyotype, or image of chromosomes, for tetrasomy X. The chromosomes are labelled 1 to 22 for the autosomes (non-sex chromosomes), then X and Y for the sex chromosomes. 1 to 22 have the normal number of two chromosomes each. The Y is empty, and the X has four chromosomes." src="//upload.wikimedia.org/wikipedia/commons/thumb/5/5c/G-banded-chromosomal-analysis-showing-48-XXXX.jpg/220px-G-banded-chromosomal-analysis-showing-48-XXXX.jpg" decoding="async" width="220" height="154" class="mw-file-element" srcset="//upload.wikimedia.org/wikipedia/commons/thumb/5/5c/G-banded-chromosomal-analysis-showing-48-XXXX.jpg/330px-G-banded-chromosomal-analysis-showing-48-XXXX.jpg 1.5x, //upload.wikimedia.org/wikipedia/commons/thumb/5/5c/G-banded-chromosomal-analysis-showing-48-XXXX.jpg/440px-G-banded-chromosomal-analysis-showing-48-XXXX.jpg 2x" data-file-width="850" data-file-height="596" /></a></span></td></tr><tr><td colspan="2" class="infobox-full-data">Karyotype of tetrasomy X</td></tr><tr><th scope="row" class="infobox-label"><a href="/wiki/Medical_specialty" title="Medical specialty">Specialty</a></th><td class="infobox-data"><a href="/wiki/Medical_genetics" title="Medical genetics">Medical genetics</a> <span class="penicon autoconfirmed-show"><span class="mw-valign-text-top" typeof="mw:File/Frameless"><a href="https://www.wikidata.org/wiki/Q2758894?uselang=en#P1995" title="Edit this on Wikidata"><img alt="Edit this on Wikidata" src="//upload.wikimedia.org/wikipedia/en/thumb/8/8a/OOjs_UI_icon_edit-ltr-progressive.svg/10px-OOjs_UI_icon_edit-ltr-progressive.svg.png" decoding="async" width="10" height="10" class="mw-file-element" srcset="//upload.wikimedia.org/wikipedia/en/thumb/8/8a/OOjs_UI_icon_edit-ltr-progressive.svg/15px-OOjs_UI_icon_edit-ltr-progressive.svg.png 1.5x, //upload.wikimedia.org/wikipedia/en/thumb/8/8a/OOjs_UI_icon_edit-ltr-progressive.svg/20px-OOjs_UI_icon_edit-ltr-progressive.svg.png 2x" data-file-width="20" data-file-height="20" /></a></span></span></td></tr><tr><th scope="row" class="infobox-label"><a href="/wiki/Signs_and_symptoms" title="Signs and symptoms">Symptoms</a></th><td class="infobox-data">Intellectual disability, facial <a href="/wiki/Teratology" title="Teratology">dysmorphology</a>, heart defects, skeletal anomalies, tall stature</td></tr><tr><th scope="row" class="infobox-label">Usual onset</th><td class="infobox-data">Conception</td></tr><tr><th scope="row" class="infobox-label">Duration</th><td class="infobox-data">Lifelong</td></tr><tr><th scope="row" class="infobox-label">Causes</th><td class="infobox-data"><a href="/wiki/Nondisjunction" title="Nondisjunction">Nondisjunction</a></td></tr><tr><th scope="row" class="infobox-label"><a href="/wiki/Medical_diagnosis" title="Medical diagnosis">Diagnostic method</a></th><td class="infobox-data"><a href="/wiki/Karyotype" title="Karyotype">Karyotype</a></td></tr><tr><th scope="row" class="infobox-label"><a href="/wiki/Differential_diagnosis" title="Differential diagnosis">Differential diagnosis</a></th><td class="infobox-data"><a href="/wiki/Trisomy_X" title="Trisomy X">Trisomy X</a>, <a href="/wiki/Pentasomy_X" title="Pentasomy X">pentasomy X</a>, <a href="/wiki/Down_syndrome" title="Down syndrome">Down syndrome</a></td></tr></tbody></table> <p><b>Tetrasomy X</b>, also known as <b>48,XXXX</b>, is a <a href="/wiki/Chromosomal_disorder" class="mw-redirect" title="Chromosomal disorder">chromosomal disorder</a> in which a female has four, rather than two, copies of the <a href="/wiki/X_chromosome" title="X chromosome">X chromosome</a>. It is associated with <a href="/wiki/Intellectual_disability" title="Intellectual disability">intellectual disability</a> of varying severity, characteristic "coarse" facial features, <a href="/wiki/Heart_defects" class="mw-redirect" title="Heart defects">heart defects</a>, and skeletal anomalies such as increased height, <a href="/wiki/Clinodactyly" title="Clinodactyly">clinodactyly</a> (incurved <a href="/wiki/Pinky_finger" class="mw-redirect" title="Pinky finger">pinky fingers</a>), and <a href="/wiki/Radioulnar_synostosis" title="Radioulnar synostosis">radioulnar synostosis</a> (fusion of the long bones in the forearm). Tetrasomy X is a rare condition, with few medically recognized cases; it is estimated to occur in approximately 1 in 50,000 females. </p><p>The disorder has a wide range of symptoms, with <a href="/wiki/Phenotype" title="Phenotype">phenotypes</a> (presentations) ranging from slight to severe. It is suspected to be underdiagnosed, as are other sex chromosome disorders. Life outcomes vary; some women have had education, employment, and children, while others have remained dependent into adulthood. Life expectancy does not appear to be substantially reduced. Tetrasomy X has phenotypic overlap with a number of more common disorders, such as <a href="/wiki/Trisomy_X" title="Trisomy X">trisomy X</a> and <a href="/wiki/Down_syndrome" title="Down syndrome">Down syndrome</a>, and diagnosis is usually unclear prior to chromosomal testing. </p><p>Tetrasomy X is generally not inherited, but rather occurs via a random event called <a href="/wiki/Nondisjunction" title="Nondisjunction">nondisjunction</a> during <a href="/wiki/Gamete" title="Gamete">gamete</a> or <a href="/wiki/Zygote" title="Zygote">zygote</a> development. The formal term for the <a href="/wiki/Karyotype" title="Karyotype">karyotype</a><sup id="cite_ref-2" class="reference"><a href="#cite_note-2"><span class="cite-bracket">[</span>note 1<span class="cite-bracket">]</span></a></sup> observed in tetrasomy X is 48,XXXX, as the condition is typified by a 48-chromosome complement rather than the 46 chromosomes observed in normal human development. </p> <meta property="mw:PageProp/toc" /> <div class="mw-heading mw-heading2"><h2 id="Presentation">Presentation</h2><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Tetrasomy_X&action=edit&section=1" title="Edit section: Presentation"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <p>Tetrasomy X has a variable presentation with a spectrum of severity, and lacks obvious defining clinical abnormalities that can lead to a diagnosis in the absence of testing.<sup id="cite_ref-pediatrics_3-0" class="reference"><a href="#cite_note-pediatrics-3"><span class="cite-bracket">[</span>2<span class="cite-bracket">]</span></a></sup> Recognizable characteristics include increased height and mild <a href="/wiki/Intellectual_disability" title="Intellectual disability">intellectual disability</a>; the average adult height in tetrasomy X is <style data-mw-deduplicate="TemplateStyles:r1154941027">.mw-parser-output .frac{white-space:nowrap}.mw-parser-output .frac .num,.mw-parser-output .frac .den{font-size:80%;line-height:0;vertical-align:super}.mw-parser-output .frac .den{vertical-align:sub}.mw-parser-output .sr-only{border:0;clip:rect(0,0,0,0);clip-path:polygon(0px 0px,0px 0px,0px 0px);height:1px;margin:-1px;overflow:hidden;padding:0;position:absolute;width:1px}</style>169 cm (5 ft <span class="frac">6<span class="sr-only">+</span><span class="num">1</span>⁄<span class="den">2</span></span> in)<sup id="cite_ref-pediatrics_3-1" class="reference"><a href="#cite_note-pediatrics-3"><span class="cite-bracket">[</span>2<span class="cite-bracket">]</span></a></sup> compared with a reference height of around 162 cm (5 ft 4 in) for women in the <a href="/wiki/Anglosphere" title="Anglosphere">Anglosphere</a>,<sup id="cite_ref-cdc_4-0" class="reference"><a href="#cite_note-cdc-4"><span class="cite-bracket">[</span>3<span class="cite-bracket">]</span></a></sup><sup id="cite_ref-australia_5-0" class="reference"><a href="#cite_note-australia-5"><span class="cite-bracket">[</span>4<span class="cite-bracket">]</span></a></sup> while a review of the first 27 women to be diagnosed with tetrasomy X found <a href="/wiki/Intelligence_quotient" title="Intelligence quotient">IQs</a> ranging from 30 to 101 with a mean of 62.<sup id="cite_ref-hereditas_6-0" class="reference"><a href="#cite_note-hereditas-6"><span class="cite-bracket">[</span>5<span class="cite-bracket">]</span></a></sup> Although some degree of intellectual disability is traditionally characteristic, two medically reported cases were of normal intelligence,<sup id="cite_ref-ajmg_7-0" class="reference"><a href="#cite_note-ajmg-7"><span class="cite-bracket">[</span>6<span class="cite-bracket">]</span></a></sup> and patient organizations report members who are only afflicted by specific <a href="/wiki/Learning_disability" title="Learning disability">learning disabilities</a> such as <a href="/wiki/Dyslexia" title="Dyslexia">dyslexia</a>.<sup id="cite_ref-unique_8-0" class="reference"><a href="#cite_note-unique-8"><span class="cite-bracket">[</span>7<span class="cite-bracket">]</span></a></sup> <a href="/wiki/Speech_delay" title="Speech delay">Speech</a> and <a href="/wiki/Language_delay" title="Language delay">language delays</a> may be associated with tetrasomy X, although the matter is unclear; some reports describe speech and language abilities in line with overall intelligence,<sup id="cite_ref-pediatrics_3-2" class="reference"><a href="#cite_note-pediatrics-3"><span class="cite-bracket">[</span>2<span class="cite-bracket">]</span></a></sup> while others describe problems independent of intelligence, in particular with subjects who have normal intelligence but significant language delays.<sup id="cite_ref-ajmg_7-1" class="reference"><a href="#cite_note-ajmg-7"><span class="cite-bracket">[</span>6<span class="cite-bracket">]</span></a></sup><sup id="cite_ref-jmg_9-0" class="reference"><a href="#cite_note-jmg-9"><span class="cite-bracket">[</span>8<span class="cite-bracket">]</span></a></sup> </p><p>A number of facial and musculoskeletal anomalies are common to all <a href="/wiki/Aneuploidy" title="Aneuploidy">aneuploidies</a> of the <a href="/wiki/Sex_chromosome" title="Sex chromosome">sex chromosomes</a>,<sup id="cite_ref-11" class="reference"><a href="#cite_note-11"><span class="cite-bracket">[</span>note 2<span class="cite-bracket">]</span></a></sup> including X chromosome <a href="/wiki/Polysomy" title="Polysomy">polysomy</a> such as tetrasomy X.<sup id="cite_ref-trisomy_12-0" class="reference"><a href="#cite_note-trisomy-12"><span class="cite-bracket">[</span>10<span class="cite-bracket">]</span></a></sup> <a href="/wiki/Epicanthic_folds" class="mw-redirect" title="Epicanthic folds">Epicanthic folds</a> (additional skin folds in the corners of the eyes) and <a href="/wiki/Hypertelorism" title="Hypertelorism">hypertelorism</a> (wide-spaced eyes) are frequent facial features.<sup id="cite_ref-pediatrics_3-3" class="reference"><a href="#cite_note-pediatrics-3"><span class="cite-bracket">[</span>2<span class="cite-bracket">]</span></a></sup> Multiple reports have described the characteristic facial features as "coarse".<sup id="cite_ref-hkjpaed_13-0" class="reference"><a href="#cite_note-hkjpaed-13"><span class="cite-bracket">[</span>11<span class="cite-bracket">]</span></a></sup><sup id="cite_ref-pituitary_14-0" class="reference"><a href="#cite_note-pituitary-14"><span class="cite-bracket">[</span>12<span class="cite-bracket">]</span></a></sup> These <a href="/wiki/Dysmorphic_feature" title="Dysmorphic feature">dysmorphic features</a> are relatively mild and do not necessarily "stand out from the crowd";<sup id="cite_ref-unique_8-1" class="reference"><a href="#cite_note-unique-8"><span class="cite-bracket">[</span>7<span class="cite-bracket">]</span></a></sup> in general, X chromosome polysomy is not associated with severe physical dysmorphism, although tetrasomy and <a href="/wiki/Pentasomy_X" title="Pentasomy X">pentasomy X</a> tend to be somewhat more noticeable in this respect than the milder and more frequent <a href="/wiki/Trisomy_X" title="Trisomy X">trisomy X</a>.<sup id="cite_ref-pediatrics_3-4" class="reference"><a href="#cite_note-pediatrics-3"><span class="cite-bracket">[</span>2<span class="cite-bracket">]</span></a></sup><sup id="cite_ref-trisomy_12-1" class="reference"><a href="#cite_note-trisomy-12"><span class="cite-bracket">[</span>10<span class="cite-bracket">]</span></a></sup> <a href="/wiki/Hypotonia" title="Hypotonia">Hypotonia</a> (low muscle tone), often severe and early-onset, is a commonly observed musculoskeletal abnormality.<sup id="cite_ref-ejp_15-0" class="reference"><a href="#cite_note-ejp-15"><span class="cite-bracket">[</span>13<span class="cite-bracket">]</span></a></sup> <a href="/wiki/Clinodactyly" title="Clinodactyly">Clinodactyly</a>, the bending inwards of the <a href="/wiki/Pinky_finger" class="mw-redirect" title="Pinky finger">pinky finger</a>, and <a href="/wiki/Radioulnar_synostosis" title="Radioulnar synostosis">radioulnar synostosis</a>, the fusion of the long bones in the forearm, are frequent.<sup id="cite_ref-pediatrics_3-5" class="reference"><a href="#cite_note-pediatrics-3"><span class="cite-bracket">[</span>2<span class="cite-bracket">]</span></a></sup> Dental abnormalities are associated with the syndrome, in particular <a href="/wiki/Taurodontism" title="Taurodontism">taurodontism</a>, where the <a href="/wiki/Pulp_(tooth)" title="Pulp (tooth)">pulp</a> of the teeth is enlarged and extends into the roots.<sup id="cite_ref-bjmg_16-0" class="reference"><a href="#cite_note-bjmg-16"><span class="cite-bracket">[</span>14<span class="cite-bracket">]</span></a></sup> These findings are not unique to tetrasomy X; epicanthic folds and hypertelorism are seen in trisomy X,<sup id="cite_ref-trisomy_12-2" class="reference"><a href="#cite_note-trisomy-12"><span class="cite-bracket">[</span>10<span class="cite-bracket">]</span></a></sup> while clinodactyly and radioulnar synostosis are findings common to all sex chromosome aneuploidies<sup id="cite_ref-orphanet_17-0" class="reference"><a href="#cite_note-orphanet-17"><span class="cite-bracket">[</span>15<span class="cite-bracket">]</span></a></sup> and taurodontism is prevalent in X-chromosome polysomy specifically.<sup id="cite_ref-xyclinic_18-0" class="reference"><a href="#cite_note-xyclinic-18"><span class="cite-bracket">[</span>16<span class="cite-bracket">]</span></a></sup> </p><p>Heart defects of various types have been associated with the syndrome, albeit at unclear prevalence. A patient organization reports approximately one-third of cases in its membership had congenital heart defects, a larger proportion than reported in the medical literature.<sup id="cite_ref-unique_8-2" class="reference"><a href="#cite_note-unique-8"><span class="cite-bracket">[</span>7<span class="cite-bracket">]</span></a></sup> Frequently reported heart defects include <a href="/wiki/Patent_ductus_arteriosus" title="Patent ductus arteriosus">patent ductus arteriosus</a><sup id="cite_ref-hkjpaed_13-1" class="reference"><a href="#cite_note-hkjpaed-13"><span class="cite-bracket">[</span>11<span class="cite-bracket">]</span></a></sup> and <a href="/wiki/Ventricular_septal_defect" title="Ventricular septal defect">ventricular septal defects</a>.<sup id="cite_ref-ip_19-0" class="reference"><a href="#cite_note-ip-19"><span class="cite-bracket">[</span>17<span class="cite-bracket">]</span></a></sup> Kidney and bladder issues have been loosely associated with the syndrome,<sup id="cite_ref-unique_8-3" class="reference"><a href="#cite_note-unique-8"><span class="cite-bracket">[</span>7<span class="cite-bracket">]</span></a></sup> as has <a href="/wiki/Epilepsy" title="Epilepsy">epilepsy</a>.<sup id="cite_ref-acta_20-0" class="reference"><a href="#cite_note-acta-20"><span class="cite-bracket">[</span>18<span class="cite-bracket">]</span></a></sup> Epilepsy in sex chromosome aneuploidies generally is mild, amenable to treatment, and often attenuates or disappears with time.<sup id="cite_ref-axys_21-0" class="reference"><a href="#cite_note-axys-21"><span class="cite-bracket">[</span>19<span class="cite-bracket">]</span></a></sup> There is also a potential association between tetrasomy X and <a href="/wiki/Autoimmune_disorder" class="mw-redirect" title="Autoimmune disorder">autoimmune disorders</a>, particularly <a href="/wiki/Lupus" title="Lupus">lupus</a>, which has been recorded in two women with tetrasomy X and appears to become more common as the number of X chromosomes increase.<sup id="cite_ref-sar_22-0" class="reference"><a href="#cite_note-sar-22"><span class="cite-bracket">[</span>20<span class="cite-bracket">]</span></a></sup> </p><p>The psychological and behavioural phenotype of tetrasomy X is understudied. Some reports describe girls and women with tetrasomy X as generally placid and pleasant, while others report <a href="/wiki/Emotional_lability" title="Emotional lability">emotional lability</a> and inappropriate behaviour.<sup id="cite_ref-pediatrics_3-6" class="reference"><a href="#cite_note-pediatrics-3"><span class="cite-bracket">[</span>2<span class="cite-bracket">]</span></a></sup> Family background and environment has a significant impact on behaviour, and cases with severe behavioural dysfunction frequently have similarly dysfunctional unaffected relatives. Expressive language delays and <a href="/wiki/Executive_dysfunction" title="Executive dysfunction">executive dysfunction</a> are common heralds of behavioural issues, due to the difficulties they cause for educational, vocational, and social functioning.<sup id="cite_ref-ajmg_7-2" class="reference"><a href="#cite_note-ajmg-7"><span class="cite-bracket">[</span>6<span class="cite-bracket">]</span></a></sup> In both men and women X-chromosome polysomy is known to be associated with <a href="/wiki/Psychosis" title="Psychosis">psychosis</a>,<sup id="cite_ref-bulletin_23-0" class="reference"><a href="#cite_note-bulletin-23"><span class="cite-bracket">[</span>21<span class="cite-bracket">]</span></a></sup> and a case is known of a girl with tetrasomy X and <a href="/wiki/Childhood_schizophrenia" title="Childhood schizophrenia">childhood-onset schizophrenia</a>.<sup id="cite_ref-aacap_24-0" class="reference"><a href="#cite_note-aacap-24"><span class="cite-bracket">[</span>22<span class="cite-bracket">]</span></a></sup> Parent reports describe children and young adults who are generally pleasant and affectionate yet shy, and have issues relating to temper tantrums, mood swings, and frustration at an inability to communicate.<sup id="cite_ref-unique_8-4" class="reference"><a href="#cite_note-unique-8"><span class="cite-bracket">[</span>7<span class="cite-bracket">]</span></a></sup> </p><p>Tetrasomy X can interfere with <a href="/wiki/Puberty" title="Puberty">pubertal</a> development. Of the adult women recorded with tetrasomy X, half have had normal pubertal development with <a href="/wiki/Menarche" title="Menarche">menarche</a> at an appropriate age, while the other half have had some form of pubertal dysfunction<sup id="cite_ref-pediatrics_3-7" class="reference"><a href="#cite_note-pediatrics-3"><span class="cite-bracket">[</span>2<span class="cite-bracket">]</span></a></sup> such as <a href="/wiki/Primary_amenorrhea" class="mw-redirect" title="Primary amenorrhea">primary amenorrhea</a>, irregular menstrual cycles, or incomplete development of <a href="/wiki/Secondary_sex_characteristic" title="Secondary sex characteristic">secondary sex characteristics</a>.<sup id="cite_ref-unique_8-5" class="reference"><a href="#cite_note-unique-8"><span class="cite-bracket">[</span>7<span class="cite-bracket">]</span></a></sup> <a href="/wiki/Premature_ovarian_failure" class="mw-redirect" title="Premature ovarian failure">Premature ovarian failure</a>, or early <a href="/wiki/Menopause" title="Menopause">menopause</a>, has been recorded.<sup id="cite_ref-jpem_25-0" class="reference"><a href="#cite_note-jpem-25"><span class="cite-bracket">[</span>23<span class="cite-bracket">]</span></a></sup> In trisomy X, premature menopause has occurred between the ages of 19 and 40,<sup id="cite_ref-trisomy_12-3" class="reference"><a href="#cite_note-trisomy-12"><span class="cite-bracket">[</span>10<span class="cite-bracket">]</span></a></sup> while in tetrasomy X, it has been recorded as young as 15.<sup id="cite_ref-ejp2_26-0" class="reference"><a href="#cite_note-ejp2-26"><span class="cite-bracket">[</span>24<span class="cite-bracket">]</span></a></sup> In tetrasomy X as for other causes of premature menopause or incomplete puberty, some writers have recommended <a href="/wiki/Hormone_replacement_therapy" title="Hormone replacement therapy">hormone replacement therapy</a>.<sup id="cite_ref-jpem_25-1" class="reference"><a href="#cite_note-jpem-25"><span class="cite-bracket">[</span>23<span class="cite-bracket">]</span></a></sup> Fertility in tetrasomy X is possible. In the first discussion of the phenomenon, three cases have been reported of women bearing children. One woman had two children, one with a normal chromosome complement and the other with <a href="/wiki/Down_syndrome" title="Down syndrome">Down syndrome</a>. Two women had one child each; one had a daughter with normal chromosomes, while the other had a stillbirth with an <a href="/wiki/Omphalocele" title="Omphalocele">omphalocele</a>.<sup id="cite_ref-pediatrics_3-8" class="reference"><a href="#cite_note-pediatrics-3"><span class="cite-bracket">[</span>2<span class="cite-bracket">]</span></a></sup> An additional woman was reported as having three children, all with normal chromosomes.<sup id="cite_ref-unique_8-6" class="reference"><a href="#cite_note-unique-8"><span class="cite-bracket">[</span>7<span class="cite-bracket">]</span></a></sup> </p> <div class="mw-heading mw-heading2"><h2 id="Causes">Causes</h2><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Tetrasomy_X&action=edit&section=2" title="Edit section: Causes"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <figure class="mw-default-size" typeof="mw:File/Thumb"><a href="/wiki/File:XXXX_syndrome.svg" class="mw-file-description"><img src="//upload.wikimedia.org/wikipedia/commons/thumb/8/8d/XXXX_syndrome.svg/220px-XXXX_syndrome.svg.png" decoding="async" width="220" height="145" class="mw-file-element" srcset="//upload.wikimedia.org/wikipedia/commons/thumb/8/8d/XXXX_syndrome.svg/330px-XXXX_syndrome.svg.png 1.5x, //upload.wikimedia.org/wikipedia/commons/thumb/8/8d/XXXX_syndrome.svg/440px-XXXX_syndrome.svg.png 2x" data-file-width="831" data-file-height="546" /></a><figcaption>Nondisjunction in tetrasomy X</figcaption></figure> <p>Tetrasomy X, like other <a href="/wiki/Aneuploidy" title="Aneuploidy">aneuploidy</a> disorders, is caused by a process called <a href="/wiki/Nondisjunction" title="Nondisjunction">nondisjunction</a>. Nondisjunction occurs when <a href="/wiki/Homologous_chromosome" title="Homologous chromosome">homologous chromosomes</a> or <a href="/wiki/Sister_chromatid" class="mw-redirect" title="Sister chromatid">sister chromatids</a> fail to separate properly during <a href="/wiki/Meiosis" title="Meiosis">meiosis</a>, the process that produces <a href="/wiki/Gamete" title="Gamete">gametes</a> (eggs or sperm), and result in gametes with too many or too few chromosomes.<sup id="cite_ref-mb_27-0" class="reference"><a href="#cite_note-mb-27"><span class="cite-bracket">[</span>25<span class="cite-bracket">]</span></a></sup> In the specific case of sex chromosome tetrasomy and pentasomy, nondisjunction occurs multiple times with the same parent; for tetrasomy X specifically, all known cases have inherited either three maternal X chromosomes and one paternal, or four maternal X chromosomes with no paternal contribution.<sup id="cite_ref-hg_28-0" class="reference"><a href="#cite_note-hg-28"><span class="cite-bracket">[</span>26<span class="cite-bracket">]</span></a></sup><sup id="cite_ref-multi_29-0" class="reference"><a href="#cite_note-multi-29"><span class="cite-bracket">[</span>27<span class="cite-bracket">]</span></a></sup> The cause of this specific pattern of inheritance is unclear. An early research group proposed that due to the gap in prevalence between the related conditions <a href="/wiki/49,XXXXY" class="mw-redirect" title="49,XXXXY">49,XXXXY</a>, which has a similar prevalence to tetrasomy X, and <a href="/wiki/Pentasomy_X" title="Pentasomy X">pentasomy X</a>, which is far rarer, the paternal X chromosomes may frequently be lost in high-level aneuploidy.<sup id="cite_ref-hg2_30-0" class="reference"><a href="#cite_note-hg2-30"><span class="cite-bracket">[</span>28<span class="cite-bracket">]</span></a></sup> More recently, speculation has been based in <a href="/wiki/Genomic_imprinting" title="Genomic imprinting">genomic imprinting</a>, with the suggestion that a similarly high number of paternal X-chromosomes would be incompatible with life.<sup id="cite_ref-abc_31-0" class="reference"><a href="#cite_note-abc-31"><span class="cite-bracket">[</span>29<span class="cite-bracket">]</span></a></sup> Nondisjunction can also occur after conception, which frequently results in a <a href="/wiki/Mosaic_(genetics)" title="Mosaic (genetics)">mosaic</a> karyotype.<sup id="cite_ref-hru_32-0" class="reference"><a href="#cite_note-hru-32"><span class="cite-bracket">[</span>30<span class="cite-bracket">]</span></a></sup> </p><p>Nondisjunction is related to <a href="/wiki/Advanced_maternal_age" title="Advanced maternal age">advanced maternal age</a>.<sup id="cite_ref-bop_33-0" class="reference"><a href="#cite_note-bop-33"><span class="cite-bracket">[</span>31<span class="cite-bracket">]</span></a></sup> In common aneuploidies such as <a href="/wiki/Down_syndrome" title="Down syndrome">Down syndrome</a>, the relationship with maternal age is extensively studied.<sup id="cite_ref-ds_34-0" class="reference"><a href="#cite_note-ds-34"><span class="cite-bracket">[</span>32<span class="cite-bracket">]</span></a></sup> In <a href="/wiki/Klinefelter_syndrome" title="Klinefelter syndrome">Klinefelter syndrome</a>, the most common and most studied sex chromosome aneuploidy, incidence increases substantially as maternal age rises.<sup id="cite_ref-jcem_35-0" class="reference"><a href="#cite_note-jcem-35"><span class="cite-bracket">[</span>33<span class="cite-bracket">]</span></a></sup> Less is understood about the role of maternal age in sex chromosome tetrasomy and pentasomy conditions, primarily due to their rarity, and no clear relationship has been established.<sup id="cite_ref-hereditas_6-1" class="reference"><a href="#cite_note-hereditas-6"><span class="cite-bracket">[</span>5<span class="cite-bracket">]</span></a></sup><sup id="cite_ref-crog_36-0" class="reference"><a href="#cite_note-crog-36"><span class="cite-bracket">[</span>34<span class="cite-bracket">]</span></a></sup> </p><p>Tetrasomy X is generally a random occurrence and does not recur in the same family. In rare cases, it may be related to a mother having <a href="/wiki/Trisomy_X" title="Trisomy X">trisomy X</a>, mosaic or otherwise. It is not caused by environmental factors.<sup id="cite_ref-unique_8-7" class="reference"><a href="#cite_note-unique-8"><span class="cite-bracket">[</span>7<span class="cite-bracket">]</span></a></sup> </p> <div class="mw-heading mw-heading2"><h2 id="Diagnosis">Diagnosis</h2><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Tetrasomy_X&action=edit&section=3" title="Edit section: Diagnosis"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <p>Chromosome <a href="/wiki/Aneuploidy" title="Aneuploidy">aneuploidies</a> such as tetrasomy X are diagnosed via <a href="/wiki/Karyotype" title="Karyotype">karyotype</a>,<sup id="cite_ref-natureed_37-0" class="reference"><a href="#cite_note-natureed-37"><span class="cite-bracket">[</span>35<span class="cite-bracket">]</span></a></sup> the process in which chromosomes are tested from blood, bone marrow, <a href="/wiki/Amniotic_fluid" title="Amniotic fluid">amniotic fluid</a>, or placental cells.<sup id="cite_ref-medline_38-0" class="reference"><a href="#cite_note-medline-38"><span class="cite-bracket">[</span>36<span class="cite-bracket">]</span></a></sup> Due to significant <a href="/wiki/Differential_diagnosis" title="Differential diagnosis">differential diagnosis</a> potential, diagnosis cannot be made on the basis of phenotype alone.<sup id="cite_ref-pediatrics_3-9" class="reference"><a href="#cite_note-pediatrics-3"><span class="cite-bracket">[</span>2<span class="cite-bracket">]</span></a></sup> </p> <div class="mw-heading mw-heading3"><h3 id="Differential_diagnosis">Differential diagnosis</h3><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Tetrasomy_X&action=edit&section=4" title="Edit section: Differential diagnosis"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <p>Tetrasomy X has many possibilities for differential diagnosis, with multiple other conditions overlapping with the phenotype. One differential diagnosis is <a href="/wiki/Trisomy_X" title="Trisomy X">trisomy X</a>, in which a female has three copies of the X chromosome. The two conditions have overlapping phenotypes with a broad range of severity.<sup id="cite_ref-ajhg_39-0" class="reference"><a href="#cite_note-ajhg-39"><span class="cite-bracket">[</span>37<span class="cite-bracket">]</span></a></sup> Both are associated with <a href="/wiki/Hypotonia" title="Hypotonia">hypotonia</a>, mild facial anomalies such as <a href="/wiki/Hypertelorism" title="Hypertelorism">hypertelorism</a> and <a href="/wiki/Epicanthic_folds" class="mw-redirect" title="Epicanthic folds">epicanthic folds</a>, increased height, <a href="/wiki/Premature_ovarian_failure" class="mw-redirect" title="Premature ovarian failure">premature ovarian failure</a>, and some reduction in intelligence. However, the phenotype of tetrasomy X is generally more severe than that of trisomy X.<sup id="cite_ref-trisomy_12-4" class="reference"><a href="#cite_note-trisomy-12"><span class="cite-bracket">[</span>10<span class="cite-bracket">]</span></a></sup> In addition, while both are associated to some degree with tall stature, the association is much stronger for trisomy X.<sup id="cite_ref-unique_8-8" class="reference"><a href="#cite_note-unique-8"><span class="cite-bracket">[</span>7<span class="cite-bracket">]</span></a></sup><sup id="cite_ref-ajmga2_40-0" class="reference"><a href="#cite_note-ajmga2-40"><span class="cite-bracket">[</span>38<span class="cite-bracket">]</span></a></sup> The clinical portrait is made more complex by the possibility of <a href="/wiki/Mosaic_(genetics)" title="Mosaic (genetics)">mosaicism</a>, where both 47,XXX and 48,XXXX cell lines are present; such cases frequently, but not certainly, present closer to the tetrasomy than trisomy profile.<sup id="cite_ref-jmdr2_41-0" class="reference"><a href="#cite_note-jmdr2-41"><span class="cite-bracket">[</span>39<span class="cite-bracket">]</span></a></sup> As well as simple 47,XXX/48,XXXX mosaicism, complex 46,XX/47,XXX/48,XXXX mosaicism has been reported.<sup id="cite_ref-aps_42-0" class="reference"><a href="#cite_note-aps-42"><span class="cite-bracket">[</span>40<span class="cite-bracket">]</span></a></sup> </p><p><a href="/wiki/Pentasomy_X" title="Pentasomy X">Pentasomy X</a>, a karyotype of five X chromosomes, is another major differential diagnosis. The phenotype of pentasomy X is similar but on average more severe. Intellectual disability is more severe, with an average IQ of 50, and pubertal delay or incomplete puberty appears more common.<sup id="cite_ref-pediatrics_3-10" class="reference"><a href="#cite_note-pediatrics-3"><span class="cite-bracket">[</span>2<span class="cite-bracket">]</span></a></sup> Unlike other X-chromosome polysomies, pentasomy X is associated with <a href="/wiki/Short_stature" title="Short stature">short stature</a>.<sup id="cite_ref-trisomy_12-5" class="reference"><a href="#cite_note-trisomy-12"><span class="cite-bracket">[</span>10<span class="cite-bracket">]</span></a></sup> Similarly, pentasomy X is commonly associated with findings that are infrequent in tetrasomy X such as <a href="/wiki/Microcephaly" title="Microcephaly">microcephaly</a> and <a href="/wiki/Intrauterine_growth_restriction" title="Intrauterine growth restriction">intrauterine growth restriction</a>.<sup id="cite_ref-ejp_15-1" class="reference"><a href="#cite_note-ejp-15"><span class="cite-bracket">[</span>13<span class="cite-bracket">]</span></a></sup> Cases of 48,XXXX/49,XXXXX mosaicism have been reported, and are often categorized as cases of pentasomy X.<sup id="cite_ref-ap_43-0" class="reference"><a href="#cite_note-ap-43"><span class="cite-bracket">[</span>41<span class="cite-bracket">]</span></a></sup> More complex mosaics have been reported, such as 47,XXX/48,XXXX/49,XXXXX<sup id="cite_ref-ip_19-1" class="reference"><a href="#cite_note-ip-19"><span class="cite-bracket">[</span>17<span class="cite-bracket">]</span></a></sup> and 45,X0/46,XX/47,XXX/48,XXXX/49,XXXXX.<sup id="cite_ref-im_44-0" class="reference"><a href="#cite_note-im-44"><span class="cite-bracket">[</span>42<span class="cite-bracket">]</span></a></sup> </p><p>An additional differential diagnosis in some cases is <a href="/wiki/Down_syndrome" title="Down syndrome">Down syndrome</a>. Some cases of tetrasomy X have been described as having "a false air of trisomy 21" (the underlying chromosomal aneuploidy in Down's), and karyotyping resulting in a diagnosis of tetrasomy X has been performed due to suspicion of Down syndrome.<sup id="cite_ref-ajhg_39-1" class="reference"><a href="#cite_note-ajhg-39"><span class="cite-bracket">[</span>37<span class="cite-bracket">]</span></a></sup><sup id="cite_ref-ae_45-0" class="reference"><a href="#cite_note-ae-45"><span class="cite-bracket">[</span>43<span class="cite-bracket">]</span></a></sup> However, this is only a differential diagnosis for a subset of cases, while others have more normal phenotypes or abnormalities inconsistent with the Down's profile.<sup id="cite_ref-ajhg_39-2" class="reference"><a href="#cite_note-ajhg-39"><span class="cite-bracket">[</span>37<span class="cite-bracket">]</span></a></sup> The matter is complicated by the observation that a number of women with X chromosome polysomy, including tetrasomy X, have had children with Down syndrome.<sup id="cite_ref-pediatrics_3-11" class="reference"><a href="#cite_note-pediatrics-3"><span class="cite-bracket">[</span>2<span class="cite-bracket">]</span></a></sup><sup id="cite_ref-jmg3_46-0" class="reference"><a href="#cite_note-jmg3-46"><span class="cite-bracket">[</span>44<span class="cite-bracket">]</span></a></sup> </p> <div class="mw-heading mw-heading2"><h2 id="Prognosis">Prognosis</h2><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Tetrasomy_X&action=edit&section=5" title="Edit section: Prognosis"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <p>The long-term prognosis for tetrasomy X appears generally good. While life expectancy is unclear, patients have been diagnosed in their 50s and 60s, and long-term follow-up of individual cases shows healthy aging with good physical health.<sup id="cite_ref-hereditas_6-2" class="reference"><a href="#cite_note-hereditas-6"><span class="cite-bracket">[</span>5<span class="cite-bracket">]</span></a></sup><sup id="cite_ref-jmdr_47-0" class="reference"><a href="#cite_note-jmdr-47"><span class="cite-bracket">[</span>45<span class="cite-bracket">]</span></a></sup> Some women live fully independent lives, while others require more persistent support from parents and caregivers, consistent with other intellectual disability syndromes of comparable severity.<sup id="cite_ref-unique_8-9" class="reference"><a href="#cite_note-unique-8"><span class="cite-bracket">[</span>7<span class="cite-bracket">]</span></a></sup> Many are able to work part-time, and some full-time; some young women attend <a href="/wiki/Tertiary_education" title="Tertiary education">tertiary education</a>, mostly <a href="/wiki/Vocational_education" title="Vocational education">vocational</a>.<sup id="cite_ref-livingwith_48-0" class="reference"><a href="#cite_note-livingwith-48"><span class="cite-bracket">[</span>46<span class="cite-bracket">]</span></a></sup> Girls and women with tetrasomy X and good outcomes are typified by supportive family environments and strong personal advocacy for their success; "[t]he children have been exposed to many varied activities and experiences and are praised for their strengths, while their limitations and delays are minimised".<sup id="cite_ref-pediatrics_3-12" class="reference"><a href="#cite_note-pediatrics-3"><span class="cite-bracket">[</span>2<span class="cite-bracket">]</span></a></sup> Adolescents should undergo screening for ovarian insufficiency, as hormone replacement therapy may be required to mitigate the risk of osteoporosis. </p> <div class="mw-heading mw-heading2"><h2 id="Epidemiology">Epidemiology</h2><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Tetrasomy_X&action=edit&section=6" title="Edit section: Epidemiology"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <p>Tetrasomy X is estimated to occur in approximately 1 in 50,000 females, with a prevalence of less than 1 in one million people.<sup id="cite_ref-49" class="reference"><a href="#cite_note-49"><span class="cite-bracket">[</span>47<span class="cite-bracket">]</span></a></sup><sup id="cite_ref-psychopathology_50-0" class="reference"><a href="#cite_note-psychopathology-50"><span class="cite-bracket">[</span>48<span class="cite-bracket">]</span></a></sup> Considering the variable phenotype, tetrasomy X support organizations and researchers think it likely there are many cases that have not come to medical attention.<sup id="cite_ref-unique_8-10" class="reference"><a href="#cite_note-unique-8"><span class="cite-bracket">[</span>7<span class="cite-bracket">]</span></a></sup> This is common to all sex chromosome aneuploidies, which have very low diagnosis rates compared to their overall population prevalence.<sup id="cite_ref-trisomy_12-6" class="reference"><a href="#cite_note-trisomy-12"><span class="cite-bracket">[</span>10<span class="cite-bracket">]</span></a></sup> Overall, sex chromosome tetrasomy and pentasomy disorders occur in 1 in 18,000 to 1 in 100,000 male live births, and are somewhat rarer in females.<sup id="cite_ref-pediatrics_3-13" class="reference"><a href="#cite_note-pediatrics-3"><span class="cite-bracket">[</span>2<span class="cite-bracket">]</span></a></sup><sup id="cite_ref-ap2_51-0" class="reference"><a href="#cite_note-ap2-51"><span class="cite-bracket">[</span>49<span class="cite-bracket">]</span></a></sup> </p><p>Tetrasomy X only occurs in females, as the <a href="/wiki/Y_chromosome" title="Y chromosome">Y chromosome</a> is in most cases necessary for male sexual development.<sup id="cite_ref-gard_52-0" class="reference"><a href="#cite_note-gard-52"><span class="cite-bracket">[</span>50<span class="cite-bracket">]</span></a></sup><sup id="cite_ref-56" class="reference"><a href="#cite_note-56"><span class="cite-bracket">[</span>note 3<span class="cite-bracket">]</span></a></sup> </p> <div class="mw-heading mw-heading2"><h2 id="History">History</h2><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Tetrasomy_X&action=edit&section=7" title="Edit section: History"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <p>Tetrasomy X was first recorded in 1961 in two intellectually disabled women residing in an institution.<sup id="cite_ref-cmaj_57-0" class="reference"><a href="#cite_note-cmaj-57"><span class="cite-bracket">[</span>54<span class="cite-bracket">]</span></a></sup> The late 1950s and early 1960s were a period of frequent ascertainment of previously unknown sex chromosome aneuploidies, with the discovery of the 48,XXXX karyotype being alongside that of <a href="/wiki/Turner_syndrome" title="Turner syndrome">45,X0</a>,<sup id="cite_ref-58" class="reference"><a href="#cite_note-58"><span class="cite-bracket">[</span>55<span class="cite-bracket">]</span></a></sup> <a href="/wiki/Klinefelter_syndrome" title="Klinefelter syndrome">47,XXY</a>,<sup id="cite_ref-59" class="reference"><a href="#cite_note-59"><span class="cite-bracket">[</span>56<span class="cite-bracket">]</span></a></sup> and <a href="/wiki/Trisomy_X" title="Trisomy X">47,XXX</a><sup id="cite_ref-60" class="reference"><a href="#cite_note-60"><span class="cite-bracket">[</span>57<span class="cite-bracket">]</span></a></sup> in 1959, <a href="/wiki/48,XXYY" class="mw-redirect" title="48,XXYY">48,XXYY</a> in 1960,<sup id="cite_ref-61" class="reference"><a href="#cite_note-61"><span class="cite-bracket">[</span>58<span class="cite-bracket">]</span></a></sup> and <a href="/wiki/47,XYY" class="mw-redirect" title="47,XYY">47,XYY</a> the same year.<sup id="cite_ref-62" class="reference"><a href="#cite_note-62"><span class="cite-bracket">[</span>59<span class="cite-bracket">]</span></a></sup> One of the two women first diagnosed with tetrasomy X was followed up twenty-six years later in her late fifties, by which time she had left the institution and was living semi-independently with her sister; she was in good physical health, had experienced menarche and menopause at typical ages (14 and 50), and showed no signs of cognitive decline.<sup id="cite_ref-jmdr_47-1" class="reference"><a href="#cite_note-jmdr-47"><span class="cite-bracket">[</span>45<span class="cite-bracket">]</span></a></sup> </p><p>Much of the medical literature for tetrasomy X dates to the 1960s and 1970s, an era of particular interest in and research on sex chromosome aneuploidy.<sup id="cite_ref-unique_8-11" class="reference"><a href="#cite_note-unique-8"><span class="cite-bracket">[</span>7<span class="cite-bracket">]</span></a></sup> Early reports were frequently discovered during chromosome screenings in institutions for the intellectually disabled.<sup id="cite_ref-hereditas_6-3" class="reference"><a href="#cite_note-hereditas-6"><span class="cite-bracket">[</span>5<span class="cite-bracket">]</span></a></sup><sup id="cite_ref-jmg2_63-0" class="reference"><a href="#cite_note-jmg2-63"><span class="cite-bracket">[</span>60<span class="cite-bracket">]</span></a></sup><sup id="cite_ref-cytogenics_64-0" class="reference"><a href="#cite_note-cytogenics-64"><span class="cite-bracket">[</span>61<span class="cite-bracket">]</span></a></sup> The early preference for diagnosis of sex chromosome aneuploidy in selected samples, such as institution residents and prisoners, led to a biased perspective on the conditions that painted an unduly negative portrait of their phenotypes and prognoses. Further research on sex chromosome aneuploidy via unselected samples such as newborn screening allowed for major conditions such as XYY syndrome, Klinefelter syndrome, and trisomy X to be re-defined by more representative phenotypes; however, rarer conditions such as tetrasomy X were not ascertained in any such studies, and therefore the medical literature continues to describe cases that were diagnosed due to developmental or behavioural issues.<sup id="cite_ref-pediatrics_3-14" class="reference"><a href="#cite_note-pediatrics-3"><span class="cite-bracket">[</span>2<span class="cite-bracket">]</span></a></sup> Aspects of the early studies remain accepted; a 1969 proposal that each supernumerary X chromosome reduces IQ by an average of 15 points<sup id="cite_ref-nature_65-0" class="reference"><a href="#cite_note-nature-65"><span class="cite-bracket">[</span>62<span class="cite-bracket">]</span></a></sup> is still used as a rule of thumb.<sup id="cite_ref-pediatrics_3-15" class="reference"><a href="#cite_note-pediatrics-3"><span class="cite-bracket">[</span>2<span class="cite-bracket">]</span></a></sup><sup id="cite_ref-unique_8-12" class="reference"><a href="#cite_note-unique-8"><span class="cite-bracket">[</span>7<span class="cite-bracket">]</span></a></sup><sup id="cite_ref-chilfren_66-0" class="reference"><a href="#cite_note-chilfren-66"><span class="cite-bracket">[</span>63<span class="cite-bracket">]</span></a></sup> </p><p>Sex chromosome tetrasomy and pentasomy conditions have consistently received little attention compared to the more common trisomy conditions. Research into conditions such as tetrasomy X has been stymied by biased samples, outdated information, and a lack of publications above the case report level.<sup id="cite_ref-pediatrics_3-16" class="reference"><a href="#cite_note-pediatrics-3"><span class="cite-bracket">[</span>2<span class="cite-bracket">]</span></a></sup> Dedicated patient and family support groups, such as Unique<sup id="cite_ref-unique_8-13" class="reference"><a href="#cite_note-unique-8"><span class="cite-bracket">[</span>7<span class="cite-bracket">]</span></a></sup> and the Tetrasomy and Pentasomy X Support Group,<sup id="cite_ref-support_67-0" class="reference"><a href="#cite_note-support-67"><span class="cite-bracket">[</span>64<span class="cite-bracket">]</span></a></sup> began to appear online in the early 2000s. A <a href="/wiki/Patient_registry" class="mw-redirect" title="Patient registry">patient registry</a> in the United Kingdom was established in 2004, amidst concerns that little serious research had been conducted on tetrasomy X for many years.<sup id="cite_ref-unique_8-14" class="reference"><a href="#cite_note-unique-8"><span class="cite-bracket">[</span>7<span class="cite-bracket">]</span></a></sup> </p><p>Diagnosis of sex chromosome aneuploidies is increasing,<sup id="cite_ref-xyclinic_18-1" class="reference"><a href="#cite_note-xyclinic-18"><span class="cite-bracket">[</span>16<span class="cite-bracket">]</span></a></sup> as is the number of supports available for families.<sup id="cite_ref-emory_68-0" class="reference"><a href="#cite_note-emory-68"><span class="cite-bracket">[</span>65<span class="cite-bracket">]</span></a></sup> The rarity of and variation in tetrasomy X limits the amount of specific support available, but major chromosome disorder organizations serve the condition and have members who are or are associates of people with it.<sup id="cite_ref-livingwith_48-1" class="reference"><a href="#cite_note-livingwith-48"><span class="cite-bracket">[</span>46<span class="cite-bracket">]</span></a></sup> </p> <div class="mw-heading mw-heading2"><h2 id="See_also">See also</h2><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Tetrasomy_X&action=edit&section=8" title="Edit section: See also"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <ul><li><a href="/wiki/Sex_chromosome_anomalies" title="Sex chromosome anomalies">Sex chromosome anomalies</a></li></ul> <div class="mw-heading mw-heading2"><h2 id="Notes">Notes</h2><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Tetrasomy_X&action=edit&section=9" title="Edit section: Notes"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <style data-mw-deduplicate="TemplateStyles:r1239543626">.mw-parser-output .reflist{margin-bottom:0.5em;list-style-type:decimal}@media screen{.mw-parser-output .reflist{font-size:90%}}.mw-parser-output .reflist .references{font-size:100%;margin-bottom:0;list-style-type:inherit}.mw-parser-output .reflist-columns-2{column-width:30em}.mw-parser-output .reflist-columns-3{column-width:25em}.mw-parser-output .reflist-columns{margin-top:0.3em}.mw-parser-output .reflist-columns ol{margin-top:0}.mw-parser-output .reflist-columns li{page-break-inside:avoid;break-inside:avoid-column}.mw-parser-output .reflist-upper-alpha{list-style-type:upper-alpha}.mw-parser-output .reflist-upper-roman{list-style-type:upper-roman}.mw-parser-output .reflist-lower-alpha{list-style-type:lower-alpha}.mw-parser-output .reflist-lower-greek{list-style-type:lower-greek}.mw-parser-output .reflist-lower-roman{list-style-type:lower-roman}</style><div class="reflist"> <div class="mw-references-wrap"><ol class="references"> <li id="cite_note-2"><span class="mw-cite-backlink"><b><a href="#cite_ref-2">^</a></b></span> <span class="reference-text">'Karyotype' as a term has multiple meanings, all of which are used here. It may refer to a person's chromosome complement, to the test used to discern said chromosome complement, or to an image of chromosomes ascertained via such a test.<sup id="cite_ref-glossary_1-0" class="reference"><a href="#cite_note-glossary-1"><span class="cite-bracket">[</span>1<span class="cite-bracket">]</span></a></sup></span> </li> <li id="cite_note-11"><span class="mw-cite-backlink"><b><a href="#cite_ref-11">^</a></b></span> <span class="reference-text">Aneuploidy is the presence of too many or too few chromosomes in a cell.<sup id="cite_ref-eh_10-0" class="reference"><a href="#cite_note-eh-10"><span class="cite-bracket">[</span>9<span class="cite-bracket">]</span></a></sup></span> </li> <li id="cite_note-56"><span class="mw-cite-backlink"><b><a href="#cite_ref-56">^</a></b></span> <span class="reference-text">Male phenotypes, innate or induced, with forms of X chromosome polysomy that are usually phenotypically female do occur. For trisomy X, a <a href="/wiki/Trans_man" title="Trans man">trans man</a> and several men with <a href="/wiki/Sex_reversal" title="Sex reversal">sex reversal</a> have been recorded.<sup id="cite_ref-biopsych_53-0" class="reference"><a href="#cite_note-biopsych-53"><span class="cite-bracket">[</span>51<span class="cite-bracket">]</span></a></sup><sup id="cite_ref-ajmgtrisomy_54-0" class="reference"><a href="#cite_note-ajmgtrisomy-54"><span class="cite-bracket">[</span>52<span class="cite-bracket">]</span></a></sup><sup id="cite_ref-ajmgtrisomy2_55-0" class="reference"><a href="#cite_note-ajmgtrisomy2-55"><span class="cite-bracket">[</span>53<span class="cite-bracket">]</span></a></sup></span> </li> </ol></div></div> <div class="mw-heading mw-heading2"><h2 id="References">References</h2><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Tetrasomy_X&action=edit&section=10" title="Edit section: References"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1239543626"><div class="reflist"> <div class="mw-references-wrap mw-references-columns"><ol class="references"> <li id="cite_note-glossary-1"><span class="mw-cite-backlink"><b><a href="#cite_ref-glossary_1-0">^</a></b></span> <span class="reference-text"><style data-mw-deduplicate="TemplateStyles:r1238218222">.mw-parser-output cite.citation{font-style:inherit;word-wrap:break-word}.mw-parser-output .citation q{quotes:"\"""\"""'""'"}.mw-parser-output .citation:target{background-color:rgba(0,127,255,0.133)}.mw-parser-output .id-lock-free.id-lock-free a{background:url("//upload.wikimedia.org/wikipedia/commons/6/65/Lock-green.svg")right 0.1em center/9px no-repeat}.mw-parser-output .id-lock-limited.id-lock-limited a,.mw-parser-output .id-lock-registration.id-lock-registration a{background:url("//upload.wikimedia.org/wikipedia/commons/d/d6/Lock-gray-alt-2.svg")right 0.1em center/9px no-repeat}.mw-parser-output .id-lock-subscription.id-lock-subscription a{background:url("//upload.wikimedia.org/wikipedia/commons/a/aa/Lock-red-alt-2.svg")right 0.1em center/9px no-repeat}.mw-parser-output .cs1-ws-icon a{background:url("//upload.wikimedia.org/wikipedia/commons/4/4c/Wikisource-logo.svg")right 0.1em center/12px no-repeat}body:not(.skin-timeless):not(.skin-minerva) .mw-parser-output .id-lock-free a,body:not(.skin-timeless):not(.skin-minerva) .mw-parser-output .id-lock-limited a,body:not(.skin-timeless):not(.skin-minerva) .mw-parser-output .id-lock-registration a,body:not(.skin-timeless):not(.skin-minerva) .mw-parser-output .id-lock-subscription a,body:not(.skin-timeless):not(.skin-minerva) .mw-parser-output .cs1-ws-icon a{background-size:contain;padding:0 1em 0 0}.mw-parser-output .cs1-code{color:inherit;background:inherit;border:none;padding:inherit}.mw-parser-output .cs1-hidden-error{display:none;color:var(--color-error,#d33)}.mw-parser-output .cs1-visible-error{color:var(--color-error,#d33)}.mw-parser-output .cs1-maint{display:none;color:#085;margin-left:0.3em}.mw-parser-output .cs1-kern-left{padding-left:0.2em}.mw-parser-output .cs1-kern-right{padding-right:0.2em}.mw-parser-output .citation .mw-selflink{font-weight:inherit}@media screen{.mw-parser-output .cs1-format{font-size:95%}html.skin-theme-clientpref-night .mw-parser-output .cs1-maint{color:#18911f}}@media screen and (prefers-color-scheme:dark){html.skin-theme-clientpref-os .mw-parser-output .cs1-maint{color:#18911f}}</style><cite id="CITEREFBiesecker" class="citation web cs1">Biesecker BB. <a rel="nofollow" class="external text" href="https://www.genome.gov/genetics-glossary/Karyotype">"Genetics Glossary: Karyotype"</a>. <i>National Human Genome Research Institute</i><span class="reference-accessdate">. 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"Abnormal sex chromosomes and mental disorders". <i>Nature</i>. <b>223</b> (5207): 680–686. <a href="/wiki/Bibcode_(identifier)" class="mw-redirect" title="Bibcode (identifier)">Bibcode</a>:<a rel="nofollow" class="external text" href="https://ui.adsabs.harvard.edu/abs/1969Natur.223..680P">1969Natur.223..680P</a>. <a href="/wiki/Doi_(identifier)" class="mw-redirect" title="Doi (identifier)">doi</a>:<a rel="nofollow" class="external text" href="https://doi.org/10.1038%2F223680a0">10.1038/223680a0</a>. <a href="/wiki/PMID_(identifier)" class="mw-redirect" title="PMID (identifier)">PMID</a> <a rel="nofollow" class="external text" href="https://pubmed.ncbi.nlm.nih.gov/4896514">4896514</a>. <a href="/wiki/S2CID_(identifier)" class="mw-redirect" title="S2CID (identifier)">S2CID</a> <a rel="nofollow" class="external text" href="https://api.semanticscholar.org/CorpusID:4242480">4242480</a>.</cite><span title="ctx_ver=Z39.88-2004&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&rft.genre=article&rft.jtitle=Nature&rft.atitle=Abnormal+sex+chromosomes+and+mental+disorders&rft.volume=223&rft.issue=5207&rft.pages=680-686&rft.date=1969-08-16&rft_id=info%3Adoi%2F10.1038%2F223680a0&rft_id=https%3A%2F%2Fapi.semanticscholar.org%2FCorpusID%3A4242480%23id-name%3DS2CID&rft_id=info%3Apmid%2F4896514&rft_id=info%3Abibcode%2F1969Natur.223..680P&rft.aulast=Polani&rft.aufirst=PE&rfr_id=info%3Asid%2Fen.wikipedia.org%3ATetrasomy+X" class="Z3988"></span></span> </li> <li id="cite_note-chilfren-66"><span class="mw-cite-backlink"><b><a href="#cite_ref-chilfren_66-0">^</a></b></span> <span class="reference-text"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1238218222"><cite id="CITEREFRicciardiCammisaBovePicchiotti2022" class="citation journal cs1">Ricciardi G, Cammisa L, Bove R, Picchiotti G, Spaziani M, Isidori AM, et al. (2022). <a rel="nofollow" class="external text" href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9688827">"Clinical, Cognitive and Neurodevelopmental Profile in Tetrasomies and Pentasomies: A Systematic Review"</a>. <i>Children</i>. <b>9</b> (11): 680–686. <a href="/wiki/Doi_(identifier)" class="mw-redirect" title="Doi (identifier)">doi</a>:<span class="id-lock-free" title="Freely accessible"><a rel="nofollow" class="external text" href="https://doi.org/10.3390%2Fchildren9111719">10.3390/children9111719</a></span>. <a href="/wiki/PMC_(identifier)" class="mw-redirect" title="PMC (identifier)">PMC</a> <span class="id-lock-free" title="Freely accessible"><a rel="nofollow" class="external text" href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9688827">9688827</a></span>. <a href="/wiki/PMID_(identifier)" class="mw-redirect" title="PMID (identifier)">PMID</a> <a rel="nofollow" class="external text" href="https://pubmed.ncbi.nlm.nih.gov/36360447">36360447</a>.</cite><span title="ctx_ver=Z39.88-2004&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&rft.genre=article&rft.jtitle=Children&rft.atitle=Clinical%2C+Cognitive+and+Neurodevelopmental+Profile+in+Tetrasomies+and+Pentasomies%3A+A+Systematic+Review&rft.volume=9&rft.issue=11&rft.pages=680-686&rft.date=2022&rft_id=https%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fpmc%2Farticles%2FPMC9688827%23id-name%3DPMC&rft_id=info%3Apmid%2F36360447&rft_id=info%3Adoi%2F10.3390%2Fchildren9111719&rft.aulast=Ricciardi&rft.aufirst=G&rft.au=Cammisa%2C+L&rft.au=Bove%2C+R&rft.au=Picchiotti%2C+G&rft.au=Spaziani%2C+M&rft.au=Isidori%2C+AM&rft_id=https%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fpmc%2Farticles%2FPMC9688827&rfr_id=info%3Asid%2Fen.wikipedia.org%3ATetrasomy+X" class="Z3988"></span></span> </li> <li id="cite_note-support-67"><span class="mw-cite-backlink"><b><a href="#cite_ref-support_67-0">^</a></b></span> <span class="reference-text"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1238218222"><cite class="citation web cs1"><a rel="nofollow" class="external text" href="https://web.archive.org/web/20160424122915/http://rarediseases.org/organizations/tetrasomypentasomy-x-support-group/">"Tetrasomy/Pentasomy X Support Group"</a>. <i><a href="/wiki/National_Organization_for_Rare_Disorders" title="National Organization for Rare Disorders">National Organization for Rare Disorders</a></i>. Archived from <a rel="nofollow" class="external text" href="https://rarediseases.org/organizations/tetrasomypentasomy-x-support-group/">the original</a> on 24 April 2016<span class="reference-accessdate">. Retrieved <span class="nowrap">10 April</span> 2021</span>.</cite><span title="ctx_ver=Z39.88-2004&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&rft.genre=unknown&rft.jtitle=National+Organization+for+Rare+Disorders&rft.atitle=Tetrasomy%2FPentasomy+X+Support+Group&rft_id=https%3A%2F%2Frarediseases.org%2Forganizations%2Ftetrasomypentasomy-x-support-group%2F&rfr_id=info%3Asid%2Fen.wikipedia.org%3ATetrasomy+X" class="Z3988"></span></span> </li> <li id="cite_note-emory-68"><span class="mw-cite-backlink"><b><a href="#cite_ref-emory_68-0">^</a></b></span> <span class="reference-text"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1238218222"><cite id="CITEREFAuchmutey2018" class="citation web cs1">Auchmutey P (2018). <a rel="nofollow" class="external text" href="http://emoryhealthdigest.emory.edu/issues/2018/spring/features/an-extraordinary-clinic/index.html">"Extraordinary care"</a>. <i>Emory Health Digest</i>. <a rel="nofollow" class="external text" href="https://web.archive.org/web/20200806133313/https://emoryhealthdigest.emory.edu/issues/2018/spring/features/an-extraordinary-clinic/index.html">Archived</a> from the original on 6 August 2020<span class="reference-accessdate">. Retrieved <span class="nowrap">26 March</span> 2021</span>.</cite><span title="ctx_ver=Z39.88-2004&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&rft.genre=unknown&rft.jtitle=Emory+Health+Digest&rft.atitle=Extraordinary+care&rft.date=2018&rft.aulast=Auchmutey&rft.aufirst=Pam&rft_id=http%3A%2F%2Femoryhealthdigest.emory.edu%2Fissues%2F2018%2Fspring%2Ffeatures%2Fan-extraordinary-clinic%2Findex.html&rfr_id=info%3Asid%2Fen.wikipedia.org%3ATetrasomy+X" class="Z3988"></span></span> </li> </ol></div></div> <div class="mw-heading mw-heading2"><h2 id="External_links">External links</h2><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Tetrasomy_X&action=edit&section=11" title="Edit section: External links"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <ul><li><span class="noviewer" typeof="mw:File"><a href="/wiki/File:Commons-logo.svg" class="mw-file-description"><img alt="" src="//upload.wikimedia.org/wikipedia/en/thumb/4/4a/Commons-logo.svg/12px-Commons-logo.svg.png" decoding="async" width="12" height="16" class="mw-file-element" srcset="//upload.wikimedia.org/wikipedia/en/thumb/4/4a/Commons-logo.svg/18px-Commons-logo.svg.png 1.5x, //upload.wikimedia.org/wikipedia/en/thumb/4/4a/Commons-logo.svg/24px-Commons-logo.svg.png 2x" data-file-width="1024" data-file-height="1376" /></a></span> Media related to <a href="https://commons.wikimedia.org/wiki/Category:Tetrasomy_X" class="extiw" title="commons:Category:Tetrasomy X">Tetrasomy X</a> at Wikimedia Commons</li></ul> <div class="navbox-styles"><style data-mw-deduplicate="TemplateStyles:r1236075235">.mw-parser-output .navbox{box-sizing:border-box;border:1px solid #a2a9b1;width:100%;clear:both;font-size:88%;text-align:center;padding:1px;margin:1em auto 0}.mw-parser-output .navbox .navbox{margin-top:0}.mw-parser-output .navbox+.navbox,.mw-parser-output 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dt:first-child::before,.mw-parser-output .hlist dd li:first-child::before,.mw-parser-output .hlist dt dd:first-child::before,.mw-parser-output .hlist dt dt:first-child::before,.mw-parser-output .hlist dt li:first-child::before,.mw-parser-output .hlist li dd:first-child::before,.mw-parser-output .hlist li dt:first-child::before,.mw-parser-output .hlist li li:first-child::before{content:" (";font-weight:normal}.mw-parser-output .hlist dd dd:last-child::after,.mw-parser-output .hlist dd dt:last-child::after,.mw-parser-output .hlist dd li:last-child::after,.mw-parser-output .hlist dt dd:last-child::after,.mw-parser-output .hlist dt dt:last-child::after,.mw-parser-output .hlist dt li:last-child::after,.mw-parser-output .hlist li dd:last-child::after,.mw-parser-output .hlist li dt:last-child::after,.mw-parser-output .hlist li li:last-child::after{content:")";font-weight:normal}.mw-parser-output .hlist ol{counter-reset:listitem}.mw-parser-output .hlist ol>li{counter-increment:listitem}.mw-parser-output .hlist ol>li::before{content:" "counter(listitem)"\a0 "}.mw-parser-output .hlist dd ol>li:first-child::before,.mw-parser-output .hlist dt ol>li:first-child::before,.mw-parser-output .hlist li ol>li:first-child::before{content:" ("counter(listitem)"\a0 "}</style><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1129693374"></div><div role="navigation" class="navbox" aria-label="Navbox" style="width:100%; margin:0.5em 0 0.5em 0;;padding:3px"><table class="nowraplinks navbox-inner" style="border-spacing:0;background:transparent;color:inherit"><tbody><tr><th scope="row" class="navbox-group" style="width:1%;background: #EAECF0;color:black;">Classification</th><td class="navbox-list-with-group navbox-list navbox-odd" style="width:100%;padding:0"><div style="padding:0 0.25em"><div style="position:relative; float:right; font-size:0.8em;"><a href="https://www.wikidata.org/wiki/Q2758894" class="extiw" title="d:Q2758894">D</a></div><div class="hlist" style="text-align:left;"><ul><li><b><a href="/wiki/International_Statistical_Classification_of_Diseases_and_Related_Health_Problems" class="mw-redirect" title="International Statistical Classification of Diseases and Related Health Problems">ICD</a>-<a href="/wiki/ICD-11" title="ICD-11">11</a></b>: <a rel="nofollow" class="external text" href="https://icd.who.int/browse/latest-release/mms/en#1293378897%2Fother">LD50.Y</a></li><li><b><a href="/wiki/International_Statistical_Classification_of_Diseases_and_Related_Health_Problems" class="mw-redirect" title="International Statistical Classification of Diseases and Related Health Problems">ICD</a>-<a href="/wiki/ICD-10" title="ICD-10">10</a></b>: <a rel="nofollow" class="external text" href="https://icd.who.int/browse10/2019/en#/Q97.1">Q97.1</a></li><li><b><a href="/wiki/International_Statistical_Classification_of_Diseases_and_Related_Health_Problems" class="mw-redirect" title="International Statistical Classification of Diseases and Related Health Problems">ICD</a>-<a href="/wiki/List_of_ICD-9_codes" title="List of ICD-9 codes">9-CM</a></b>: <a rel="nofollow" class="external text" href="http://www.icd9data.com/getICD9Code.ashx?icd9=758.81">758.81</a></li><li><b><a href="/wiki/Medical_Subject_Headings" title="Medical Subject Headings">MeSH</a></b>: <a rel="nofollow" class="external text" href="https://meshb.nlm.nih.gov/record/ui?ui=C536502">C536502</a></li><li><b><a href="/wiki/SNOMED_CT" title="SNOMED CT">SNOMED CT</a></b>: <a rel="nofollow" class="external text" href="http://snomed.info/id/10567003">10567003</a></li></ul></div></div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%;background: #EAECF0;color:black;">External resources</th><td class="navbox-list-with-group navbox-list navbox-even" style="width:100%;padding:0"><div style="padding:0 0.25em"><div class="hlist" style="text-align:left;"><ul><li><b><a href="/wiki/GARD" class="mw-redirect" title="GARD">GARD</a></b>: <a rel="nofollow" class="external text" href="https://rarediseases.info.nih.gov/diseases/7754/Tetrasomy-X">Tetrasomy X</a></li><li><b><a href="/wiki/Orphanet" title="Orphanet">Orphanet</a></b>: <a rel="nofollow" class="external text" href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=9">9</a></li><li><b>Scholia</b>: <a class="external text" href="https://tools.wmflabs.org/scholia/topic/Q2758894">Q2758894</a></li></ul></div></div></td></tr></tbody></table></div> <div class="navbox-styles"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1129693374"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1236075235"></div><div role="navigation" class="navbox" aria-labelledby="Chromosome_abnormalities" style="padding:3px"><table class="nowraplinks mw-collapsible autocollapse navbox-inner" style="border-spacing:0;background:transparent;color:inherit"><tbody><tr><th scope="col" class="navbox-title" 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.mw-parser-output .navbar li a abbr{color:var(--color-base)!important}@media(prefers-color-scheme:dark){html.skin-theme-clientpref-os .mw-parser-output .navbar li a abbr{color:var(--color-base)!important}}@media print{.mw-parser-output .navbar{display:none!important}}</style><div class="navbar plainlinks hlist navbar-mini"><ul><li class="nv-view"><a href="/wiki/Template:Chromosomal_abnormalities" title="Template:Chromosomal abnormalities"><abbr title="View this template">v</abbr></a></li><li class="nv-talk"><a href="/wiki/Template_talk:Chromosomal_abnormalities" title="Template talk:Chromosomal abnormalities"><abbr title="Discuss this template">t</abbr></a></li><li class="nv-edit"><a href="/wiki/Special:EditPage/Template:Chromosomal_abnormalities" title="Special:EditPage/Template:Chromosomal abnormalities"><abbr title="Edit this template">e</abbr></a></li></ul></div><div id="Chromosome_abnormalities" style="font-size:114%;margin:0 4em"><a href="/wiki/Chromosome_abnormality" title="Chromosome abnormality">Chromosome abnormalities</a></div></th></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Autosome" title="Autosome">Autosomal</a></th><td class="navbox-list-with-group navbox-list navbox-odd hlist" style="width:100%;padding:0"><div style="padding:0 0.25em"></div><table class="nowraplinks navbox-subgroup" style="border-spacing:0"><tbody><tr><th scope="row" class="navbox-group" style="width:1%">Duplications,<br />including <a href="/wiki/Trisomy" title="Trisomy">trisomies</a></th><td class="navbox-list-with-group navbox-list navbox-odd" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/1q21.1_duplication_syndrome" title="1q21.1 duplication syndrome">1q21.1 duplication syndrome</a></li> <li><a href="/wiki/Syndactyly-nystagmus_syndrome_due_to_2q31.1_microduplication" title="Syndactyly-nystagmus syndrome due to 2q31.1 microduplication">2q31.1 microduplication</a></li> <li><a href="/wiki/Trisomy_8" title="Trisomy 8">Trisomy 8</a></li> <li><a href="/wiki/Trisomy_9" title="Trisomy 9">Trisomy 9</a></li> <li><a href="/wiki/Tetrasomy_9p" title="Tetrasomy 9p">Tetrasomy 9p</a></li> <li><a href="/wiki/Distal_trisomy_10q" title="Distal trisomy 10q">Distal trisomy 10q</a></li> <li><a href="/wiki/Patau_syndrome" title="Patau syndrome">Patau syndrome</a> <ul><li><a href="/wiki/Chromosome_13" title="Chromosome 13">13</a></li></ul></li> <li><a href="/wiki/Trisomy_16" title="Trisomy 16">Trisomy 16</a></li> <li><a href="/wiki/16p11.2_duplication_syndrome" title="16p11.2 duplication syndrome">16p11.2 duplication syndrome</a></li> <li><a href="/wiki/Trisomy_18" title="Trisomy 18">Trisomy 18</a></li> <li><a href="/wiki/Down_syndrome" title="Down syndrome">Down syndrome</a> <ul><li><a href="/wiki/Chromosome_21" title="Chromosome 21">21</a></li></ul></li> <li><a href="/wiki/22q11.2_duplication_syndrome" title="22q11.2 duplication syndrome">22q11.2 duplication syndrome</a></li> <li><a href="/wiki/Trisomy_22" title="Trisomy 22">Trisomy 22</a></li> <li><a href="/wiki/Cat_eye_syndrome" title="Cat eye syndrome">Cat-eye syndrome</a> <ul><li><a href="/wiki/Chromosome_22" title="Chromosome 22">22</a></li></ul></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Deletion_(genetics)" title="Deletion (genetics)">Deletions</a></th><td class="navbox-list-with-group navbox-list navbox-even" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li>(<a href="/wiki/1q21.1_copy_number_variations" title="1q21.1 copy number variations">1q21.1 copy number variations</a>/<a href="/wiki/1q21.1_deletion_syndrome" title="1q21.1 deletion syndrome">1q21.1 deletion syndrome</a>/<a href="/wiki/1q21.1_duplication_syndrome" title="1q21.1 duplication syndrome">1q21.1 duplication syndrome</a>/<a href="/wiki/TAR_syndrome" title="TAR syndrome">TAR syndrome</a>/<a href="/wiki/1p36_deletion_syndrome" title="1p36 deletion syndrome">1p36 deletion syndrome</a>) <ul><li><a href="/wiki/Chromosome_1" title="Chromosome 1">1</a></li></ul></li> <li><a href="/wiki/Wolf%E2%80%93Hirschhorn_syndrome" title="Wolf–Hirschhorn syndrome">Wolf–Hirschhorn syndrome</a> <ul><li><a href="/wiki/Chromosome_4" title="Chromosome 4">4</a></li></ul></li> <li><a href="/wiki/Cri_du_chat_syndrome" title="Cri du chat syndrome">Cri du chat syndrome</a>/<a href="/wiki/Chromosome_5q_deletion_syndrome" title="Chromosome 5q deletion syndrome">Chromosome 5q deletion syndrome</a> <ul><li><a href="/wiki/Chromosome_5" title="Chromosome 5">5</a></li></ul></li> <li><a href="/wiki/Williams_syndrome" title="Williams syndrome">Williams syndrome</a> <ul><li><a href="/wiki/Chromosome_7" title="Chromosome 7">7</a></li></ul></li> <li><a href="/wiki/Jacobsen_syndrome" title="Jacobsen syndrome">Jacobsen syndrome</a> <ul><li><a href="/wiki/Chromosome_11" title="Chromosome 11">11</a></li></ul></li> <li><a href="/wiki/Miller%E2%80%93Dieker_syndrome" title="Miller–Dieker syndrome">Miller–Dieker syndrome</a>/<a href="/wiki/Smith%E2%80%93Magenis_syndrome" title="Smith–Magenis syndrome">Smith–Magenis syndrome</a>/<a href="/wiki/17q12_microdeletion_syndrome" title="17q12 microdeletion syndrome">17q12 microdeletion syndrome</a> <ul><li><a href="/wiki/Chromosome_17" title="Chromosome 17">17</a></li></ul></li> <li><a href="/wiki/DiGeorge_syndrome" title="DiGeorge syndrome">DiGeorge syndrome</a> <ul><li><a href="/wiki/Chromosome_22" title="Chromosome 22">22</a></li></ul></li> <li><a href="/wiki/22q11.2_distal_deletion_syndrome" title="22q11.2 distal deletion syndrome">22q11.2 distal deletion syndrome</a> <ul><li><a href="/wiki/Chromosome_22" title="Chromosome 22">22</a></li></ul></li> <li><a href="/wiki/22q13_deletion_syndrome" title="22q13 deletion syndrome">22q13 deletion syndrome</a> <ul><li><a href="/wiki/Chromosome_22" title="Chromosome 22">22</a></li></ul></li></ul> <ul><li><i><a href="/wiki/Genomic_imprinting" title="Genomic imprinting">genomic imprinting</a></i> <ul><li><a href="/wiki/Angelman_syndrome" title="Angelman syndrome">Angelman syndrome</a>/<a href="/wiki/Prader%E2%80%93Willi_syndrome" title="Prader–Willi syndrome">Prader–Willi syndrome</a> (<a href="/wiki/Chromosome_15" title="Chromosome 15">15</a>)</li></ul></li></ul> <ul><li><a href="/wiki/Distal_18q-" title="Distal 18q-">Distal 18q-</a>/<a href="/wiki/Proximal_18q-" title="Proximal 18q-">Proximal 18q-</a></li></ul> </div></td></tr></tbody></table><div></div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/X_chromosome" title="X chromosome">X</a>/<a href="/wiki/Y_chromosome" title="Y chromosome">Y</a> linked</th><td class="navbox-list-with-group navbox-list navbox-odd hlist" style="width:100%;padding:0"><div style="padding:0 0.25em"></div><table class="nowraplinks navbox-subgroup" style="border-spacing:0"><tbody><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Monosomy" title="Monosomy">Monosomies</a></th><td class="navbox-list-with-group navbox-list navbox-odd" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Turner_syndrome" title="Turner syndrome">Turner syndrome (45,X)</a></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Trisomy" title="Trisomy">Trisomies</a>/<a href="/wiki/Tetrasomy" title="Tetrasomy">tetrasomies</a>,<br /><a href="/wiki/Aneuploidy" title="Aneuploidy">other karyotypes</a>/<a href="/wiki/Mosaic_(genetics)" title="Mosaic (genetics)">mosaics</a></th><td class="navbox-list-with-group navbox-list navbox-even" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Klinefelter_syndrome" title="Klinefelter syndrome">Klinefelter syndrome (47,XXY)</a></li> <li><a href="/wiki/XXYY_syndrome" title="XXYY syndrome">XXYY syndrome (48,XXYY)</a></li> <li><a href="/wiki/XXXY_syndrome" title="XXXY syndrome">XXXY syndrome (48,XXXY)</a></li> <li><a href="/wiki/XXXYY_syndrome" title="XXXYY syndrome">XXXYY syndrome (49,XXXYY)</a></li> <li><a href="/wiki/XXXXY_syndrome" title="XXXXY syndrome">XXXXY syndrome (49,XXXXY)</a></li></ul> <ul><li><a href="/wiki/Trisomy_X" title="Trisomy X">Trisomy X (47,XXX)</a></li> <li><a class="mw-selflink selflink">Tetrasomy X (48,XXXX)</a></li> <li><a href="/wiki/Pentasomy_X" title="Pentasomy X">Pentasomy X (49,XXXXX)</a></li></ul> <ul><li><a href="/wiki/XYY_syndrome" title="XYY syndrome">XYY syndrome (47,XYY)</a></li> <li><a href="/wiki/XYYY_syndrome" title="XYYY syndrome">XYYY syndrome (48,XYYY)</a></li> <li><a href="/wiki/XYYYY_syndrome" title="XYYYY syndrome">XYYYY syndrome (49,XYYYY)</a></li></ul> <ul><li><a href="/wiki/45,X/46,XY_mosaicism" title="45,X/46,XY mosaicism">45,X/46,XY</a></li> <li><a href="/wiki/46,XX/46,XY" title="46,XX/46,XY">46,XX/46,XY</a></li></ul> </div></td></tr></tbody></table><div></div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Chromosomal_translocation" title="Chromosomal translocation">Translocations</a></th><td class="navbox-list-with-group navbox-list navbox-odd hlist" style="width:100%;padding:0"><div style="padding:0 0.25em"></div><table class="nowraplinks navbox-subgroup" style="border-spacing:0"><tbody><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Leukemia" title="Leukemia">Leukemia</a>/<a href="/wiki/Lymphoma" title="Lymphoma">lymphoma</a></th><td class="navbox-list-with-group navbox-list navbox-odd" style="width:100%;padding:0"><div style="padding:0 0.25em"></div><table class="nowraplinks navbox-subgroup" style="border-spacing:0"><tbody><tr><th scope="row" class="navbox-group" style="width:1%">Lymphoid</th><td class="navbox-list-with-group navbox-list navbox-odd" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Burkitt_lymphoma" title="Burkitt lymphoma">Burkitt lymphoma</a> t(8 <a href="/wiki/Myc" title="Myc">MYC</a>;14 <a href="/wiki/IGH@" title="IGH@">IGH</a>)</li> <li><a href="/wiki/Follicular_lymphoma" title="Follicular lymphoma">Follicular lymphoma</a> t(14 <a href="/wiki/IGH@" title="IGH@">IGH</a>;18 <a href="/wiki/Bcl-2" title="Bcl-2">BCL2</a>)</li> <li><a href="/wiki/Mantle_cell_lymphoma" title="Mantle cell lymphoma">Mantle cell lymphoma</a>/<a href="/wiki/Multiple_myeloma" title="Multiple myeloma">Multiple myeloma</a> <a href="/wiki/T(11:14)" title="T(11:14)">t(11 CCND1:14 IGH)</a></li> <li><a href="/wiki/Anaplastic_large-cell_lymphoma" title="Anaplastic large-cell lymphoma">Anaplastic large-cell lymphoma </a> t(2 <a href="/wiki/Anaplastic_lymphoma_kinase" title="Anaplastic lymphoma kinase">ALK</a>;5 <a href="/wiki/NPM1" title="NPM1">NPM1</a>)</li> <li><a href="/wiki/Acute_lymphoblastic_leukemia" title="Acute lymphoblastic leukemia">Acute lymphoblastic leukemia</a></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%">Myeloid</th><td class="navbox-list-with-group navbox-list navbox-even" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Philadelphia_chromosome" title="Philadelphia chromosome">Philadelphia chromosome</a> t(9 <a href="/wiki/ABL_(gene)" title="ABL (gene)">ABL</a>; 22 <a href="/wiki/BCR_(gene)" title="BCR (gene)">BCR</a>)</li> <li><a href="/wiki/Acute_myeloblastic_leukemia_with_maturation" title="Acute myeloblastic leukemia with maturation">Acute myeloblastic leukemia with maturation</a> t(8 <a href="/wiki/RUNX1T1" title="RUNX1T1">RUNX1T1</a>;21 <a href="/wiki/RUNX1" title="RUNX1">RUNX1</a>)</li> <li><a href="/wiki/Acute_promyelocytic_leukemia" title="Acute promyelocytic leukemia">Acute promyelocytic leukemia</a> t(15 <a href="/wiki/Promyelocytic_leukemia_protein" title="Promyelocytic leukemia protein">PML</a>,17 <a href="/wiki/Retinoic_acid_receptor_alpha" title="Retinoic acid receptor alpha">RARA</a>)</li> <li><a href="/wiki/Acute_megakaryoblastic_leukemia" title="Acute megakaryoblastic leukemia">Acute megakaryoblastic leukemia</a> t(1 <a href="/wiki/RBM15" title="RBM15">RBM15</a>;22 <a href="/wiki/MKL1" title="MKL1">MKL1</a>)</li></ul> </div></td></tr></tbody></table><div></div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%">Other</th><td class="navbox-list-with-group navbox-list navbox-odd" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Ewing_sarcoma" title="Ewing sarcoma">Ewing sarcoma</a> t(11 <a href="/wiki/FLI1" title="FLI1">FLI1</a>; 22 <a href="/wiki/RNA-binding_protein_EWS" title="RNA-binding protein EWS">EWS</a>)</li> <li><a href="/wiki/Synovial_sarcoma" title="Synovial sarcoma">Synovial sarcoma</a> t(x <a href="/wiki/SYT1" title="SYT1">SYT</a>;18 <a href="/wiki/Synovial_sarcoma,_X_breakpoint" title="Synovial sarcoma, X breakpoint">SSX</a>)</li> <li><a href="/wiki/Dermatofibrosarcoma_protuberans" title="Dermatofibrosarcoma protuberans">Dermatofibrosarcoma protuberans</a> t(17 <a href="/wiki/Collagen,_type_I,_alpha_1" title="Collagen, type I, alpha 1">COL1A1</a>;22 <a href="/wiki/PDGFB" title="PDGFB">PDGFB</a>)</li> <li><a href="/wiki/Myxoid_liposarcoma" title="Myxoid liposarcoma">Myxoid liposarcoma</a> t(12 <a href="/wiki/DNA_damage-inducible_transcript_3" title="DNA damage-inducible transcript 3">DDIT3</a>; 16 <a href="/wiki/RNA-binding_protein_FUS" title="RNA-binding protein FUS">FUS</a>)</li> <li><a href="/wiki/Desmoplastic_small-round-cell_tumor" title="Desmoplastic small-round-cell tumor">Desmoplastic small-round-cell tumor</a> t(11 <a href="/wiki/Wilms_tumor_protein" title="Wilms tumor protein">WT1</a>; 22 <a href="/wiki/RNA-binding_protein_EWS" title="RNA-binding protein EWS">EWS</a>)</li> <li><a href="/wiki/Alveolar_rhabdomyosarcoma" title="Alveolar rhabdomyosarcoma">Alveolar rhabdomyosarcoma</a> t(2 <a href="/wiki/PAX3" title="PAX3">PAX3</a>; 13 <a href="/wiki/Forkhead_box_protein_O1" title="Forkhead box protein O1">FOXO1</a>) t (1 <a href="/wiki/PAX7" title="PAX7">PAX7</a>; 13 <a href="/wiki/Forkhead_box_protein_O1" title="Forkhead box protein O1">FOXO1</a>)</li></ul> </div></td></tr></tbody></table><div></div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%">Other</th><td class="navbox-list-with-group navbox-list navbox-even hlist" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Fragile_X_syndrome" title="Fragile X syndrome">Fragile X syndrome</a></li> <li><a href="/wiki/Uniparental_disomy" title="Uniparental disomy">Uniparental disomy</a></li> <li><a href="/wiki/XX_male_syndrome" title="XX male syndrome">XX male syndrome</a>/<a href="/wiki/XX_male_syndrome" title="XX male syndrome">46,XX testicular disorders of sex development</a></li> <li><a href="/wiki/Marker_chromosome" title="Marker chromosome">Marker chromosome</a></li> <li><a href="/wiki/Ring_chromosome" title="Ring chromosome">Ring chromosome</a> <ul><li><a href="/w/index.php?title=Ring_chromosome_6&action=edit&redlink=1" class="new" title="Ring chromosome 6 (page does not exist)">6</a>; <a href="/w/index.php?title=Ring_chromosome_9&action=edit&redlink=1" class="new" title="Ring chromosome 9 (page does not exist)">9</a>; <a href="/wiki/Ring_chromosome_14_syndrome" title="Ring chromosome 14 syndrome">14</a>; <a href="/wiki/Ring_chromosome_15" title="Ring chromosome 15">15</a>; <a href="/wiki/Ring_chromosome_18" title="Ring chromosome 18">18</a>; <a href="/wiki/Ring_chromosome_20_syndrome" title="Ring chromosome 20 syndrome">20</a>; <a href="/w/index.php?title=Ring_chromosome_21&action=edit&redlink=1" class="new" title="Ring chromosome 21 (page does not exist)">21</a>, <a href="/wiki/Ring_chromosome_22" title="Ring chromosome 22">22</a></li></ul></li></ul> </div></td></tr></tbody></table></div>    </div><noscript><img src="https://login.wikimedia.org/wiki/Special:CentralAutoLogin/start?type=1x1" alt="" width="1" height="1" style="border: 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