• Shruthi Mohan, Teena Koshy, Perumal Vekatachalam, Sheela Nampoothiri, Dhanya Yesodharan, Kalpana Gowrishankar, Jeevan Kumar, Latha Ravichandran, Santhosh Joseph, Anupama Chandrasekaran, and Solomon F D Paul.
• Department of Human Genetics, Sri Ramachandra University, Porur, India.
• Indian J Med Res. 2016 Aug 1; 144 (2): 206-214.

Background & ObjectivesSubtelomeres are prone to deleterious rearrangements owing to their proximity to unique sequences on the one end and telomeric repetitive sequences, which increase their tendency to recombine, on the other end. These subtelomeric rearrangements resulting in segmental aneusomy are reported to contribute to the aetiology of idiopathic intellectual disability/developmental delay (ID/DD). We undertook this study to estimate the frequency of subtelomeric rearrangements in children with ID/DD.MethodsOne hundred and twenty seven children with idiopathic ID/DD were tested for subtelomeric rearrangements using karyotyping and FISH. Blood samples were cultured, harvested, fixed and GTG-banded using the standard protocols.ResultsRearrangements involving the subtelomeres were observed in 7.8 per cent of the tested samples. Detection of rearrangements visible at the resolution of the karyotype constituted 2.3 per cent, while those rearrangements detected only with FISH constituted 5.5 per cent. Five deletions and five unbalanced translocations were detected. Analysis of parental samples wherever possible was informative regarding the inheritance of the rearrangement.Interpretation & ConclusionsThe frequency of subtelomeric rearrangements observed in this study was within the reported range of 0-35 per cent. All abnormal genotypes were clinically correlated. Further analysis with array technologies presents a future prospect. Our results suggest the need to test individuals with ID/DD for subtelomeric rearrangements using sensitive methods such as FISH.

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