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  • Title: [Mental retardation linked to fragility of chromosome X: current knowledge].
    Author: Mattei JF, Mattei MG, Auger M, Giraud F.
    Journal: J Genet Hum; 1984 Jul; 32(3):167-92. PubMed ID: 6237176.
    Abstract:
    The association of the fragile X chromosome with X-linked mental retardation is now well established. The main clinical features are mental retardation, typical facial dysmorphism and macroorchidism. Cytogenetically there is a fragile site in band Xq27-28 which can be demonstrated using specific techniques. The genetic studies are compatible with a X-linked dominant inheritance with an incomplete penetrance. A preliminary estimation of an overall frequency of 1: 2000 males for the fra(X)(q) condition is suggested.
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