title: A genetic diagnostic survey in an institutionalized population of 116 moderately to severely retarded male patients: the Rekem experience.
abstract: In this paper we report the results of a genetic-diagnostic survey of 116 institutionalized male patients who were moderately to severely retarded. In 31 patients (26.7%) a constitutional cause of their mental impairment was found: chromosomal abnormalities in 11 patients (9.5%), Mendelian disorders in 16 (13.8%), of which 8 fragile X patients (6.9%), and a MCA/MR syndrome in 4 patients (3.4%). Acquired forms of mental retardation occurred in 26 patients (22.4%): CNS-dysfunction due to pre-, peri- or postnatal causes were most likely in 18 patients (15.5%), while infections played a major role in 8 (6.9%). In 59 patients (50.9%) not etiological diagnosis could be made.
authors.affiliation: Dept. of Clinical Genetics, University of Limburg, Maastricht, The Netherlands.
authors.forename: C
authors.initials: C
authors.lastname: Schaap
authors.forename: C T
authors.initials: CT
authors.lastname: Schrander-Stumpel
authors.forename: E T
authors.initials: ET
authors.lastname: Colla-Pijkels
authors.forename: J
authors.initials: J
authors.lastname: Van Driessche
authors.forename: R
authors.initials: R
authors.lastname: Kusters
authors.forename: J P
authors.initials: JP
authors.lastname: Fryns
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D001530:Belgium; D002869:Chromosome Aberrations / Q000235:genetics*; D025063:Chromosome Disorders; D003410:Cri-du-Chat Syndrome / Q000235:genetics; D003937:Diagnosis, Differential; D005600:Fragile X Syndrome / Q000235:genetics; D005820:Genetic Testing; D006801:Humans; D007326:Institutionalization; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D010641:Phenotype