Cytogenetic, epidemiological and clinical profile of children with Down syndrome in Karnataka

Abstract

IntroductionDown syndrome is one of the best recognized and the most common chromosomal aneuploidy with high life expectancy than other chromosomal aneuploidies. The clinical features are quite distinguishing and easily identifiable, but a karyotype analysis is always better to confirm the diagnosis. It is also needed for calculating the risk of recurrence and for genetic counseling. This study was done to analyze the clinical features, cytogenetic and epidemiological profile of Down syndrome children in Tumkur and Bangalore region of Karnataka. Material and methodsKaryotyping was done in 75 children with clinical features of Down syndrome by standard methods. Information about epidemiological & clinical features was documented. Informed written consent was taken from the parents. Comparison was made in the observed epidemiological profile, clinical features and the karyotype obtained. ResultsAmong the 75 children with clinical features of Down syndrome, 59 had trisomy 21, 11 had translocation and 2 had mosaicism and 3 had a normal karyotype. The mean maternal age was 28.5 years. The prominent abnormalities noted were craniofacial features (71.8%). Characteristic limb abnormalities were also commonly observed (48.4). Congenital heart disease was diagnosed 56.1% cases analyzed. DiscussionEfforts should be made to establish early diagnosis and proper screening. Confirmation of clinical diagnosis by Karyotyping is essential to determine the precise diagnosis, calculate recurrence risk and provide basis for genetic counseling.