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Indian Journal of Human Genetics
Medknow Publications on behalf of Indian Society of Human Genetics
ISSN: 0971-6866
EISSN: 0971-6866
Vol. 16, No. 3, 2010, pp. 164-165
Bioline Code: hg10034
Full paper language: English
Document type: Case Report
Document available free of charge

Indian Journal of Human Genetics, Vol. 16, No. 3, 2010, pp. 164-165

 en A Sri Lankan child with 49,XXXXY syndrome
Dissanayake, Vajira H.W.; Bandarage, Palinda; Pedurupillay, Christeen R.J. & Jayasekara, Rohan W.

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.

Keywords
Ambiguous genitalia, sex chromosome aneuploidy, XXXXY syndrome

 
© Copyright 2010 Indian Journal of Human Genetics.
Alternative site location: http://www.ijhg.com/

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