Chromosomal aberrations in intellectual disability children in eastern up population.
European Journal of Molecular & Clinical Medicine,
2021, Volume 8, Issue 1, Pages 2336-2342
AbstractGenetic factors play a significant role in the etiology of intellectual disability (ID). The goal of this study was to identify microscopically visible chromosomal abnormalities in an Indian ID population and to determine their frequency, pattern, and clinical features. A total of 527 intellectually disabled individuals from special schools and institutions in 2 different State on U.P. and Bihar Population were screened for cytogenetic abnormalities. Additional analyses were carried out for verification or further characterization by using fluorescence in situ hybridization, multiplex ligation-dependent probe amplification, or analysis of the FMR1 promoter CGG(n) repeat. Of the 527 individuals with ID, chromosomal abnormalities were found in 87 (16.5%). Trisomy 21 was the major chromosomal abnormality, identified in 74 patients (14%). Other chromosome abnormalities included 8 X-chromosomal and 5 autosomal aberrations. Details on chromosome aberrations and confirmation analyses are discussed. This study shows that chromosomal abnormalities are an important cause of ID in India. Cytogenetic analysis is important for an adequate diagnosis in patients and subsequent genetic counselling for their families, especially in developing countries with limited facilities, such as India.
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