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Chromosomal aberration leading to congenital malformations is an important cause for infant mortality. Forty five infants with congenital malformations affecting various systems were screened by photokaryotyping for evidence of cytogenetic abnormalities after taking thorough family and obstetric history. Among the cases multiple malformations suggestive of Down’s Syndrome was the commonest. The association between malformations and parental consanguinity was found to be significant. Most of the babies with malformations were low birth weight babies. Chromosomal anomalies in the form of Trisomy 18 and 21 were seen in cases with multiple malformations. Avoiding consanguineous marriage may help in reducing the incidence of congenital malformations.
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Author(s): Muthukumaravel N Ramachandra Rao K and Vishnu Bhat B
Cytogenetic studies, Karyotyping, Congenital malformations