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.
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.
Haspeslagh
M
M
Centre for Human Genetics, University of Leuven, Belgium.
Fryns
J P
JP
Holvoet
M
M
Collen
G
G
Dierck
G
G
Baeke
J
J
van den Berghe
H
H
D000328:Adult; D001530:Belgium / Q000453:epidemiology; D002869:Chromosome Aberrations / Q000453:epidemiology* / Q000235:genetics; D025063:Chromosome Disorders; D002874:Chromosome Mapping; D005600:Fragile X Syndrome / Q000453:epidemiology* / Q000235:genetics; D005820:Genetic Testing; D006778:Hospitals, Psychiatric; D006801:Humans; D015994:Incidence; D008607:Intellectual Disability / Q000453:epidemiology / Q000209:etiology* / Q000235:genetics; D008297:Male; D010375:Pedigree; D010641:Phenotype