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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.
Lamia Ben Jemaa, and
Samah Khemir, and
Faouzi Maazoul, and
Laurent Richard, and
Cherif Beldjord, and
Myriam Chaabouni, and
Habiba Chaabouni
January 2009,
Expert review of molecular diagnostics,
Lamia Ben Jemaa, and
Samah Khemir, and
Faouzi Maazoul, and
Laurent Richard, and
Cherif Beldjord, and
Myriam Chaabouni, and
Habiba Chaabouni
September 1995,
Diagnostic molecular pathology : the American journal of surgical pathology, part B,
Lamia Ben Jemaa, and
Samah Khemir, and
Faouzi Maazoul, and
Laurent Richard, and
Cherif Beldjord, and
Myriam Chaabouni, and
Habiba Chaabouni
June 2012,
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics,
Lamia Ben Jemaa, and
Samah Khemir, and
Faouzi Maazoul, and
Laurent Richard, and
Cherif Beldjord, and
Myriam Chaabouni, and
Habiba Chaabouni
May 1995,
Harefuah,
Lamia Ben Jemaa, and
Samah Khemir, and
Faouzi Maazoul, and
Laurent Richard, and
Cherif Beldjord, and
Myriam Chaabouni, and
Habiba Chaabouni
December 1995,
Clinics in laboratory medicine,
Lamia Ben Jemaa, and
Samah Khemir, and
Faouzi Maazoul, and
Laurent Richard, and
Cherif Beldjord, and
Myriam Chaabouni, and
Habiba Chaabouni
October 2001,
Revista de neurologia,
Lamia Ben Jemaa, and
Samah Khemir, and
Faouzi Maazoul, and
Laurent Richard, and
Cherif Beldjord, and
Myriam Chaabouni, and
Habiba Chaabouni
January 2015,
Expert review of molecular diagnostics,
Lamia Ben Jemaa, and
Samah Khemir, and
Faouzi Maazoul, and
Laurent Richard, and
Cherif Beldjord, and
Myriam Chaabouni, and
Habiba Chaabouni
November 2003,
Current protocols in human genetics,
Lamia Ben Jemaa, and
Samah Khemir, and
Faouzi Maazoul, and
Laurent Richard, and
Cherif Beldjord, and
Myriam Chaabouni, and
Habiba Chaabouni
April 1999,
Nihon rinsho. Japanese journal of clinical medicine,
Lamia Ben Jemaa, and
Samah Khemir, and
Faouzi Maazoul, and
Laurent Richard, and
Cherif Beldjord, and
Myriam Chaabouni, and
Habiba Chaabouni
August 2000,
The journal of medical investigation : JMI,
