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Chromosome 15q trisomy
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{{Infobox medical condition (new) | name = Chromosome 15q trisomy | synonyms = '''duplication 15 q''' | image = | alt = | caption = | pronounce = | field = | symptoms = | complications = | onset = | duration = | types = | causes = | risks = | diagnosis = | differential = | prevention = | treatment = | medication = | prognosis = | frequency = | deaths = }} '''Chromosome 15q duplication''' is an extremely rare [[genetic disorder]] in which there is an excess copy of a segment of DNA found on the long ("q") arm of [[human]] [[chromosome 15]]. As a result, affected cells contain a total of 3 copies of the duplicated bases, instead of the usual 2 copies - one inherited from the mother and one from the father - found in a normal human diploid genome. ==Signs and symptoms== The disorder is primarily characterized by growth abnormalities, which range from growth retardation to accelerated growth, [[intellectual disability]], and distinctive malformations of the [[head (anatomy)|head]] and [[face]]. Additional abnormalities may involve malformation of the [[skeleton]], [[vertebral column|spine]] and [[neck]]; [[finger]]s and/or [[toe]]s; [[genital]]s (particularly in males); and, in some cases, [[heart]] problems and [[seizures]].<ref name=NORD>{{cite web |title=Chromosome 15, Distal Trisomy 15q |url=https://rarediseases.org/rare-diseases/chromosome-15-distal-trisomy-15q/ |website=NORD (National Organization for Rare Disorders) |access-date=23 April 2019}}</ref><ref>{{cite web |title=Chromosome 15q duplication {{!}} Genetic and Rare Diseases Information Center (GARD) β an NCATS Program |url=https://rarediseases.info.nih.gov/diseases/5314/chromosome-15q-duplication |website=rarediseases.info.nih.gov |access-date=23 April 2019}}</ref> ==Diagnosis== The diagnosis of partial trisomy 15q can be made prenatally or postnatally. The method used for precise diagnosis depends on a number of factors, including the size of the segment of duplicated material, its location, its orientation (inverted), and others. ==Treatment== The condition is incurable and treatment is based on alleviating symptoms.<ref name=NORD/> ==Epidemiology== C15 trisomy affects twice as many males as females. Fewer than 50 cases have been reported.<ref name=NORD/> ==See also== * [[Chromosome 15q partial deletion]] ==References== {{Reflist}} {{Medical resources | ICD10 = Q92.3 | ICD9 = <!--{{ICD9|xxx}}--> | ICDO = | OMIM = | DiseasesDB = | MedlinePlus = | eMedicineSubj = | eMedicineTopic = | MeSH = C538036 | GeneReviewsNBK = | GeneReviewsName = | Orphanet = 1707 }} {{DEFAULTSORT:Chromosome 15q Trisomy}} [[Category:Genetic disorders with no OMIM]]
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