Chromosomal Abnormalities among Children with Congenital Malformations
2010
Increase in chromosomal abnormalities is reported in patients referred with birth defects and infertility.
This study was aimed to carry out chromosomal analysis for the presence of cytogenetic abnormalities among
congenitally malformed children. The karyotypic status could be determined in 176 cases of the 195 malformed
children studied. Thirty (about 17%) children exhibited chromosomal anomalies. Among 85 cases with multiple
system malformations, 32 (37.6%) showed chromosomal abnormalities and all of them belonged to the category of
known syndromes. Chromosomal variants were observed in two children. Down syndrome was the most common
syndrome encountered. Evaluation of chromosomal abnormalities is important in understanding the etiology of
congenital malformations. Further, a correlation does exist between phenotypic features and the karyotype. Variants
are in general, not related directly to the phenotype.
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