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A Sri Lankan child with 49,XXXXY syndrome
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Journal Article
A Sri Lankan child with 49,XXXXY syndrome
2011
Overview
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.
Publisher
Medknow Publications on behalf of Indian Society of Human Genetics
