Indian Journal of Human Genetics
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CASE REPORT
Year : 2010  |  Volume : 16  |  Issue : 3  |  Page : 164-165

A Sri Lankan child with 49,XXXXY syndrome


1 Human Genetics Unit, Faculty of Medicine, University of Colombo, Colombo;Asiri Centre for Genomic and Regenerative Medicine, Asiri Surgical Hospital, Colombo, Sri Lanka
2 Human Genetics Unit, Faculty of Medicine, University of Colombo, Colombo, Sri Lanka
3 Asiri Centre for Genomic and Regenerative Medicine, Asiri Surgical Hospital, Colombo, Sri Lanka

Correspondence Address:
Vajira H.W Dissanayake
Human Genetics Unit, Faculty of Medicine, University of Colombo, Kynsey Road, Colombo 00800
Sri Lanka
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/0971-6866.73413

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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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