alexa Abstract | Clinical implication of Chromosomal Fragile sites in Down syndrome

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Abstract

Fragile sites /Chromosomal aberrations play a role in the etiology of mental retardation and other associated complications. Since Down syndrome is the most common genetic cause of mental retardation, the present study was done to evaluate the effect of fragile sites on sys-temic diseases and growth and developmental pattern among them. Human lymphocyte cell culture with folate free medium showed fragile sites in 22 cases among 40 investigated. Sys-temic examination and developmental delay were assessed according to standard protocol and compared with fragile sites . Fragile sites were associated with more severe mental re-tardation , reduced growth and increased systemic diseases among children with Down syndrome.

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Author(s): Sangeetha A Parkash Chand Vishnu Bhat B Ramachandra Rao K Nandha Kumar S

Keywords

Down syndrome (DS), Chromosomal Fragile Sites (CFS), developmental delay

 
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