title: A Sri Lankan child with 49,XXXXY syndrome.
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.
authors.affiliation: Human Genetics Unit, Faculty of Medicine, University of Colombo, Colombo, Sri Lanka.
authors.forename: Vajira H W
authors.initials: VH
authors.lastname: Dissanayake
authors.forename: Palinda
authors.initials: P
authors.lastname: Bandarage
authors.forename: Christeen R J
authors.initials: CR
authors.lastname: Pedurupillay
authors.forename: Rohan W
authors.initials: RW
authors.lastname: Jayasekara