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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. 166-168
Bioline Code: hg10035
Full paper language: English
Document type: Case Report
Document available free of charge

Indian Journal of Human Genetics, Vol. 16, No. 3, 2010, pp. 166-168

 en A rare case of congenital heart disease with ambiguous genitalia
Lingaiah, Kusuma; Parshwanath, Bharath A.; Mysore, Savitha R.; Krishnamurthy, Balasundaram & Ramachandra, Nallur B.


Birth defects have become the important cause of mortality and morbidity in the perinatal period. Congenital heart disease (CHD) is the most common birth defect which includes the varying forms of cardiac abnormalities and occurs with an incidence of 1 per 100 live births. In most of the cases, CHD is an isolated malformation, but about 33% have associated anomalies. Ambiguous genitalia are one such rare anomaly that is associated with CHD among other genital abnormalities. The possible causes for this association could be pseudohermaphroditism, which in turn, may be due to congenital adrenal hyperplasia. The government of any country should consider providing for its people a free prenatal diagnosis for susceptible disorders.

Ambiguous genitalia, chromosome, congenital heart disease, pseudohermaphroditism

© Copyright 2010 Indian Journal of Human Genetics.
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