A Sri Lankan child with 49,XXXXY syndrome.
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Date
2010-09
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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.
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Keywords
Ambiguous genitalia, sex chromosome aneuploidy, XXXXY syndrome
Citation
Dissanayake Vajira H W, Bandarage Palinda, Pedurupillay Christeen R J, Jayasekara Rohan W. A Sri Lankan child with 49,XXXXY syndrome. Indian Journal of Human Genetics. 2010 Sept; 16(3): 164-165.