ABSTRACT
Pentasomy 49,XXXXY is a rare sex chromosome disorder usually presenting with ambigous genitalia, facial dysmorphism, mental retardation and a combination of cardiac, skeletal and other malformations. The incidence of the condition is estimated to be 1 in 85,000 male births. Previously, this condition was identified as a Klinefelter variant. The condition is suspected in a patient, by a combination of characteristic clinical findings, and the diagnosis is confirmed by chromosome culture and karyotyping. In the case we report here, the main presentation of ambiguous genitalia led to a suspicion of a sex chromosome aneuploidy which was subsequently confirmed by chromosomal analysis.
Subject(s)
Aneuploidy , Child , Chromosomes, Human, X/genetics , Humans , Infant , Male , Parents , Sex Chromosome Aberrations/epidemiology , Sex Chromosome Aberrations/genetics , Sex Chromosome Disorders/epidemiology , Sex Chromosome Disorders/genetics , Sri Lanka/epidemiologySubject(s)
Humans , Genetics, Medical , Sex Chromosome Aberrations/diagnosis , Sex Chromosome Aberrations/epidemiology , Sex Chromosome Aberrations/genetics , Sex Chromosome Aberrations/pathology , Sex Chromosome Aberrations/physiopathology , Macular Degeneration/etiology , Macular Degeneration/geneticsABSTRACT
Forneceu-se informaçäo sobre os cariótipos de 552 indivíduos, que foi comparada com dados similares coletados previamente em 1.380 pessoas. Os resultados foram examinados de acordo com o tipo de averiquaçäo, e consideraram-se com mais detalhe os derivados de indicaçöes clínicas. Dois períodos de tempo foram comparados (1965-1979 e 1980-1985), e observaram-se algumas diferenças entre eles nas prevalências de anormalidades dos cromossomos sexuais, bem como de certos tipos de trissomia e rearranjos estruturais autossômicos. Foram descritas em detalhe quatro translocaçöes (1;3, 1;18, 9;11, 5;X) que podem ter condicionado problemas reprodutivos em seus portadores