title: Prevalence of fragile X(A) syndrome in mentally retarded children at a genetics referral centre in Delhi, India.
abstract: The usefulness of the clinical score based on Turner 5-trait scale prior to undertaking cytogenetic or molecular tests for the diagnosis of the fragile X(A) syndrome was evaluated. Mean clinical score in fragile X positive patients was significantly higher than in fragile X negative patients (7.06 +/- 1.85 vs 2.98 +/- 1.6, P < 0.0001). Of 1206 children with mental retardation 360 (29.8%) boys fulfilled defined clinical criteria to be screened for fragile X syndrome by chromosomal studies. Twenty three (6.38%) of them were found to be positive for fragile X syndrome using cytogenetic techniques. Molecular confirmation in 21 affected boys (two were lost to follow up) showed full mutation in 19 (5.27%). Two patients showed a normal 5.2 kb band on southern blot. This frequency (5.27%) of fragile X(A) patients among children with non-specific mental retardation is comparable to the results of studies in the West. Routine use of the clinical score, and the selection of patients with a score > or = 5 for diagnostic tests would reduce the laboratory load, especially in countries with limited facilities.
authors.affiliation: Department of Pediatrics, W.H.O. Collaborating Centre in Genetics, All India Institute of Medical Sciences, New Delhi.
authors.forename: U
authors.initials: U
authors.lastname: Jain
authors.forename: I C
authors.initials: IC
authors.lastname: Verma
authors.forename: A K
authors.initials: AK
authors.lastname: Kapoor
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D005600:Fragile X Syndrome / Q000453:epidemiology*; D006801:Humans; D007194:India / Q000453:epidemiology; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D015995:Prevalence