The Turkish Journal of Pediatrics 2015 , Vol 57 , Num 2
Subtelomeric Screening in Serbian Children with Dysmorphic Features and Unexplained Developmental Delay/Intellectual Disabilities
Institutes of 1Human Genetics, 3Legal Medicine and 4Neurology CCS and 2University Children`s Hospital, University of Belgrade Faculty of Medicine, Belgrade, Serbia.
Developmental delay and intellectual disabilities (DD/ID) are significant health problems affecting 3% of the human population. Submicroscopic chromosomal rearrangements involving subtelomeric regions are often considered to be the cause of unexplained DD/ID. Screening of subtelomeric regions was performed in 80 unrelated patients with DD/ID and normal GTG-banded chromosomes using the MLPA method with two kits (SALSA P070-B1 and P036-E1). The MLPA screening revealed subtelomeric chromosome aberrations in four cases (5%). The aberrations detected were: 1p deletion, 1p deletion combined with 12q duplication, 4p deletion, and 9p deletion combined with 15q duplication. The deletions detected were classified as causative for the patients’ observed phenotypes. This study confirms the high frequency of subtelomeric rearrangements in unexplained DD/ID and reinforces the argument for routine subtelomeric screening in order to get a correct diagnosis, establish genotype-phenotype correlations and offer accurate genetic counseling. Keywords : MLPA method, subtelomeric chromosome screening, intellectual disabilities, developmental delay.
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