K S Rana1, R G Holla2. 1. Consultant (Paediatrics and Paediatric Neurology), Command Hospital (SC), Pune - 40. 2. Consultant (Neonatology), Fortis Hospital, Shalimar Bagh, New Delhi.
Abstract
BACKGROUND: Cross-sectional study was carried out to determine the frequency of subtelomeric abnormalities in children with idiopathic mental retardation (MR). METHOD: Multiplex ligation-dependant probe amplification technique was used to detect subtelomeric abnormalities. RESULTS: Out of 35 children, 21 (60%) were males. Family history of MR was present in 23%. Main clinical features included speech delay in all motor delay cases (83%) and non-specific dysmorphic features (77%). CONCLUSION: Associated clinical features were more in children with intelligence quotient (IQ) < 50 (P < 0.05). Subtelomeric deletion (4q35) was observed in one child.
BACKGROUND: Cross-sectional study was carried out to determine the frequency of subtelomeric abnormalities in children with idiopathic mental retardation (MR). METHOD: Multiplex ligation-dependant probe amplification technique was used to detect subtelomeric abnormalities. RESULTS: Out of 35 children, 21 (60%) were males. Family history of MR was present in 23%. Main clinical features included speech delay in all motor delay cases (83%) and non-specific dysmorphic features (77%). CONCLUSION: Associated clinical features were more in children with intelligence quotient (IQ) < 50 (P < 0.05). Subtelomeric deletion (4q35) was observed in one child.
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