Chromosomal abnormalities in cases with congenital malformations

Abstract

In this study we have investigated the chromosomal constitution of patients with congenital malformations in order to determine chromosomal anomaly frequencies. The conventional GTG banding patterns were routinely employed for chromosome identification. Among the 658 individuals with congenital malformations who were analyzed there were 130 cases of Down's syndrome, 2 of Edward's syndrome, 2 of Patau's syndrome, 5 of Turners syndrome, 1 of Klinefelters syndrome, 1 of tetrazomy X, 5 cases of chromosomal deletion, 1 case of triploidy. We found abnormal chromosomes in 22.3% of patients, 91% of which were numerical abnormalities, remaining 9% being structural variants. We conclude that patients with congenital malformations should be routinely karyotyped.