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JOURNAL ARTICLE

A Sri Lankan child with 49,XXXXY syndrome

Vajira H W Dissanayake, Palinda Bandarage, Christeen R J Pedurupillay, Rohan W Jayasekara
Indian Journal of Human Genetics 2010, 16 (3): 164-5
21206706
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.

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