[Molecular diagnosis of fragile X syndrome].
BACKGROUND
The fragile X syndrome was the most frequent etiology of hereditary mental retardation but the clinical diagnosis is not easy and the individual clinical symptoms were not specific so the confirmation will be made par molecular study of the gene of the fragile X syndrome. The aim of our study is to realise the molecular diagnosis of the fragile X syndrome in 200 Tunisian boys with mental retardation. Our results shows that the frequency of the fragile X syndrome is 7,6%. In the most cases there is a family history of mental retardation with medium age at 11 years. All the boys with the full mutation have mental retardation, dysmorphic features and macro-orchidism (pubescent boy)


CONCLUSIONS
The screening of the molecular abnormalities of FMRI gene must be realised in every boy with mental retardation or boy with delayed speech without any identified etiology. The earlier diagnosis is important for genetic counselling.
Ben Jemaa
Lamia
L
Service des maladies congénitales et héréditaires, EPS Charles Nicolle, Tunis, Tunisie.
Khemir
Samah
S
Maazoul
Faouzi
F
Richard
Laurent
L
Beldjord
Cherif
C
Chaabouni
Myriam
M
Chaabouni
Habiba
H
D000015:Abnormalities, Multiple / Q000235:genetics; D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D019465:Craniofacial Abnormalities / Q000235:genetics; D051860:Fragile X Messenger Ribonucleoprotein 1 / Q000235:genetics*; D005600:Fragile X Syndrome / Q000175:diagnosis* / Q000235:genetics*; D005817:Genetic Counseling; D005819:Genetic Markers; D005820:Genetic Testing; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D008297:Male; D009154:Mutation; D010375:Pedigree; D011627:Puberty; D012189:Retrospective Studies; D013737:Testis / Q000002:abnormalities; D014416:Tunisia
D051860:Fragile X Messenger Ribonucleoprotein 1; D005819:Genetic Markers