Indian J Med Res
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Several studies have been conducted in India to determine the prevalence of learning disabilities in school children which has been reported to be 3-10 per cent among students population. The present study was conducted to find out prevalence of specific developmental disorder of scholastic skills in students of classes VII to XII and to find out feasibility of screening tool in Chandigarh, India. ⋯ The findings of our study conducted in community, showed that specific learning disability was not identified even till later age. The screening instrument thus could be used by teachers to suspect students with specific learning disability.
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Microdeletion syndromes are characterized by small (<5 Mb) chromosomal deletions in which one or more genes are involved. These are frequently associated with multiple congenital anomalies. The phenotype is the result of haploinsufficiency of genes in the critical interval. Fluorescence in situ hybridization (FISH) technique is commonly used for precise genetic diagnosis of microdeletion syndromes. This study was conducted to assess the role of FISH in the diagnosis of suspected microdeletion syndrome. ⋯ We conclude that FISH should not be the method of choice for clinically suspected microdeletion syndromes. We propose to follow strict clinical criteria for FISH testing or preferably to follow better methods (genotype first approach). Whole genome screening may be used as first line of test and FISH may be used for confirmation of screening result, screening of family members and prenatal diagnosis.
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Detection of maternal alloimmunization against red cell antigens is vital in the management of haemolytic disease of the foetus and newborn (HDFN). This study was conducted to measure the presence of allosensitization to blood group antibodies in the antenatal women attending a tertiary care hospital and to observe the proportion of minor blood group antibodies to assess the benefit of screening for the same. ⋯ The presence of alloimmunization in our study corroborated with data reported from India. The most frequent antibody was anti-D. However, a significant fraction was non-D. Alloimmunization among Rh(D) positive women though low as compared to Rh(D) negative women, included clinically significant antibodies, and most of these were non Rh.