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  • Title: A clinical, cytogenetic and familial study of 307 mentally retarded, institutionalized, adult male patients with special interest for fra(X) negative X-linked mental retardation.
    Author: Haspeslagh M, Fryns JP, Holvoet M, Collen G, Dierck G, Baeke J, van den Berghe H.
    Journal: Clin Genet; 1991 Jun; 39(6):434-41. PubMed ID: 1863991.
    Abstract:
    In this study we report the results of a systematic etiological, clinical genetic study in 307 institutionalized mentally retarded adult males. Special attention is paid to the nosology of X-linked mental retardation. During the survey 63 males with one or more 'Martin Bell'-like features were identified in whom repetitive fragile Xq27-3 screenings were negative. In 13 of them, belonging to 9 different families, pedigree data were compatible with X-linked inheritance. This finding confirms the existence of one (or more) forms of fra(x) negative mental retardation with 'Martin Bell'-like features.
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