title: Martin-Bell phenotype in males with acquired central nervous system lesions. 15 males diagnosed during a systematic etiological study of 274 mentally retarded males.
abstract: Martin-Bell phenotype in males with acquired central nervous system lesions. 15 males diagnosed during a systematic etiological study of 274 mentally retarded males: After a brief survey of the etiological findings in 274 moderately mentally retarded adult males, we present data on the phenotypic features in the group of 65 patients with a acquired (pre-, peri- or postnatal) cause of their handicap. In 15 of them "Martin-Bell stigmata" were observed i.e. they had 3 or more symptoms as found in fra(X) positive "Martin-Bell" males. These data are a further indication for a disregulation of the cortico-hypothalamico-hypophyseal axis in the fra(X) syndrome.
authors.affiliation: Centre for Human Genetics, University of Leuven, Belgium.
authors.forename: J P
authors.initials: JP
authors.lastname: Fryns
authors.forename: P
authors.initials: P
authors.lastname: Volcke
authors.forename: H
authors.initials: H
authors.lastname: Van Den Berghe
mesh_terms: D000015:Abnormalities, Multiple / Q000209:etiology / Q000235:genetics; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D001925:Brain Damage, Chronic / Q000209:etiology / Q000235:genetics*; D003937:Diagnosis, Differential; D005600:Fragile X Syndrome / Q000209:etiology / Q000235:genetics*; D006801:Humans; D008607:Intellectual Disability / Q000209:etiology / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D010641:Phenotype