Fragile x syndrome among mentally retarded children Guadeloupe, French West Indies
West Indian med. j
; West Indian med. j;45(Suppl 2): 36, Apr. 1996.
Article
em En
| MedCarib
| ID: med-4598
Biblioteca responsável:
JM3.1
Localização: JM3.1; R18.W4
ABSTRACT
Fragile x syndrome (FXS) is the most frequent cause of inherited mental retardation (11500 males, 12500 females) and affects all ethnic groups. Recent demonstration of an original genetic basis, involving expansion of a (CGG)n repeat in affected individuals, has allowed development of efficient, specific and sensitive laboratory procedures of DNA analysis. Diagnosis of FXS has important implications in terms of genetic counselling. We have conducted a screening survey of FXS (and FRAXE) in Guadeloupe, among 138 boys and 88 girls affected with moderate to severe mental retardation and attending special schools. Using the procedure described by Wang et al (1995), with modifications, in order to estimate prevalence of FXS among these children and compare it to prevalences observed among Caucasian populations identify FXS index cases allowing for genetic counseling for their families and evaluate systematic screening for FXS and FRAXE using DNA analysis. We found a prevalence of FXS of 5.7 percent among boys and 0 percent among girls (3.5 percent overall); none of these cases was already known. No FRAXE case was identified. These results are consistent with other similar surveys concerning Caucasian populations. This study, like others, has demonstrated the efficiency, acceptablility and usefulness on DNA analysis for FXS screening (AU)
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Coleções:
01-internacional
Base de dados:
MedCarib
Assunto principal:
Síndrome do Cromossomo X Frágil
/
Deficiência Intelectual
Tipo de estudo:
Risk_factors_studies
Limite:
Child
/
Female
/
Humans
/
Male
País/Região como assunto:
Caribe
/
Guadalupe
Idioma:
En
Revista:
West Indian med. j
Ano de publicação:
1996
Tipo de documento:
Article
/
Congress and conference