A Sri Lankan child with 49,XXXXY syndrome |
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Authors: | Dissanayake Vajira H W Bandarage Palinda Pedurupillay Christeen R J Jayasekara Rohan W |
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Affiliation: | 1Human Genetics Unit, Faculty of Medicine, University of Colombo, Colombo, Sri Lanka;2Asiri Centre for Genomic and Regenerative Medicine, Asiri Surgical Hospital, Colombo, Sri Lanka |
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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 |
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