Fragile X study

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Dr. Osama K Zaki                    

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[Product Image]  
Metaphase of Fragile X study of a female Carrier.

    The fragile site on X chromosome (q27.3) is rarely expressed in normal culture conditions,  Therefore, blood samples of the patients in question have to be cultured using various methods that promote expression of the fragile site in the X chromosome.

     To insure reliable results we usually apply two or three simultaneous methods to challenge the X chromosome fragile site.  ... 

Indication: 

bulletMale cases suspected to have fragile-X syndrome (based on clinical features).
bulletFemales suspected to be a carrier of the disease.
bulletPrenatal diagnosis of fetus of a carrier female (Amniotic fluid)

N.B. The use of  Molecular screening for tandem repeats on X-chromosome has largely replaced this technique. The only advantage of cytogenetic study is the detection of rare non classic fragile-X sites . 

 

 

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