Open AccessA Sri Lankan child with 49, XXXXY syndrome
Author(s) -
Vajira H. W. Dissanayake,
Palinda Bandarage,
Christeen Ramane J. Pedurupillay,
Rohan W. Jayasekara
Publication year - 2010
Publication title -
indian journal of human genetics
Language(s) - English
Resource type - Journals
eISSN - 0971-6866
pISSN - 1998-362X
DOI - 10.4103/0971-6866.73413
Subject(s) - klinefelter syndrome , karyotype , ambiguous genitalia , aneuploidy , chromosome , incidence (geometry) , presentation (obstetrics) , medicine , genetics , biology , pediatrics , obstetrics , physics , optics , gene
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.