Cytogenetic analysis of children with congenital dysmorphism reported to tertiary care hospital in Lahore, Pakistan

Abstract

The chromosomal imbalances are often seen in association with congenital dysmorphism. The identification of such chromosomal abnormalities is important, both as regards clinical management and for accurate genetic counselling. The current study sought to determine the association of chromosomal abnormalities to different groups of dysmorphisms. Patients and Methods: This one-year descriptive cross-sectional study was conducted at The Children’s Hospital and the Institute of Child Health, Lahore. Total 100 children between the age of 1 day to 12 years, reported with congenital dysmorphism were included in this study. Physical examination of the patients was carried out to note down their dysmorphic features. The blood samples of these children were taken to culture cells for chromosomal analysis by the G-banding method. Results: Physical examination of the 92 patients revealed isolated dysmorphism in 14% and multiple dysmorphisms in 86% of the cases. Chromosomal abnormalities were found in 23.9% of the total patients. Among them, 7.7% with isolated and 26.5% cases with multiple malformations had chromosomal abnormalities. Conclusion: This study concluded that both isolated and multiple congenital dysmorphisms are significantly associated with chromosomal abnormalities, therefore, chromosome analysis should be part of initial investigations of all the dysmorphic children.