A genetic-diagnostic survey in an institutionalized population of 173 severely mentally retarded patients.
In this report we summarize the findings in a genetic-diagnostic survey of an institutionalized population of 173 severely mentally retarded patients. The etiological study was based on a clinical genetic approach with special attention for dysmorphology and neurological findings. A constitutional disorder, as the direct cause of the severe mental handicap, was found in 75 patients (43.35%). A detailed survey of the different data and findings are given, and compared with the results of previous studies.
D000293:Adolescent; D000328:Adult; D001321:Autistic Disorder / Q000209:etiology; D002490:Central Nervous System / Q000002:abnormalities; D002493:Central Nervous System Diseases / Q000150:complications; D002648:Child; D002675:Child, Preschool; D002869:Chromosome Aberrations; D005260:Female; D005600:Fragile X Syndrome / Q000235:genetics; D006801:Humans; D007223:Infant; D007239:Infections / Q000150:complications; D008607:Intellectual Disability / Q000175:diagnosis / Q000209:etiology / Q000235:genetics*; D008297:Male; D009154:Mutation; D013577:Syndrome