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Indian J Hum Genet. 2010 Sep;16(3):164-5. doi: 10.4103/0971-6866.73413.

A Sri Lankan child with 49,XXXXY syndrome.

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Human Genetics Unit, Faculty of Medicine, University of Colombo, Colombo, Sri Lanka.


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.


Ambiguous genitalia; XXXXY syndrome; sex chromosome aneuploidy

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