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  • Title: Autism in fragile X females.
    Author: Hagerman RJ, Chudley AE, Knoll JH, Jackson AW, Kemper M, Ahmad R.
    Journal: Am J Med Genet; 1986; 23(1-2):375-80. PubMed ID: 3953655.
    Abstract:
    We present two women with the fragile X syndrome (Martin-Bell syndrome) and autism. Both are mentally retarded, one mildly and one severely. Cytogenetic studies showed a high percentage of lymphocytes with the fragile X chromosome and inactivation occurring preferentially in the normal X chromosome. Autism is shown to be a severe behavioral and cognitive manifestation of the fragile X syndrome in females.
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