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
- 28 June 1991
- journal article
- Published by Wiley in Clinical Genetics
- Vol. 39 (6) , 434-441
- https://doi.org/10.1111/j.1399-0004.1991.tb03055.x
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.Keywords
This publication has 3 references indexed in Scilit:
- A genetic-diagnostic survey in an institutionalized population of 158 mentally retarded patients. The Viaene experienceClinical Genetics, 2008
- A peculiar subphenotype in the fra(X) syndrome: extreme obesity‐short stature‐stubby hands and feet‐diffuse hyperpigmentation. Further evidence of disturbed hypothalamic function in the fra(X) syndrome?Clinical Genetics, 1987
- A genetic‐diagnostic survey in an institutionalized population of 173 severely mentally retarded patientsClinical Genetics, 1986