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 |
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Authors: | M. Haspeslagh J. P. Fryns M. Holvoet G. Collen G. Dierck J. Baeke H. van den Berghe |
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Affiliation: | Centre for Human Genetics, University of Leuven, Belgium. |
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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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Keywords: | fra(X) screening genetics of mental retardation X-linked retardation |
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