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Cytogenetics in Mental Retardation: An Overview | Chapter 09 | New Horizons in Medicine and Medical Research Vol. 6

 It is critical to determine the aetiology of mental retardation in order to limit the risk of recurrence and, in cases where MR is transmissible, to provide prenatal diagnostics and correct genetic counselling. The study emphasises the value of cytogenetic investigations in finding anomalies such as rings and mosaics that may be missed by CMA assays. Mental retardation is described as a lack of mental capacity development and associated behavioural issues. It is the most prevalent neuropsychiatric illness, affecting 2.5-3.0% of the population in all civilised nations. Mental retardation is commonly caused by chromosomal disorders. In the first report from North India, cytogenetic examinations were performed on 143 mentally disturbed persons who were sent to the Guru Nanak Dev University's Centre for Genetic Disorders in Amritsar, India, between 1996 and 2002. These cases were typically referred to as Down syndrome, delayed milestones, mental retardation, and so on. The patients' ages ranged from one month to eighteen years. Surprisingly, the majority of the patients, 58/143 (40.5 percent), were firstborns, with an average maternal age of 27.6 years. The most common autosomal aberration, both in males and females, was found to be free trisomy 21. (45.4 percent males, 18.8 percent females). Translocations were found in 2.7 percent of the patients, while free trisomy was detected in 92/143 (64.3 percent). 45,XY,+t(13;14), 46,XY,+t(14;21), 45,XX,+t(14;21), and 46,XX,+t(14;21) karyotypes were among the latter. When aneuploidies are suspected in patients with intellectual disability (ID)/MR, cytogenetic analysis should be performed, and Array Comparative Genomic Hybridization should be utilised as the first-line genetic test, especially in non-syndromic instances.


Author(S) Details

Anupam Kaur
Department of Human Genetics, Guru Nanak Dev University, Amritsar, 143005, Punjab, India.

View Book:- https://stm.bookpi.org/NHMMR-V6/article/view/6440

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