title: Cytogenetic findings in moderate and severe mental retardation. A study of an institutionalized population of 1991 patients.
abstract: The cytogenetic data of a large scale study in an institutionalized population of 1991 moderately and severely mentally retarded patients are presented. In 21.3% of these patients a chromosomal aberration was diagnosed (14.9% Down syndrome patients and 3.5% "other chromosomal anomalies"). A fragile X screening was performed in 354 males, and was found to be positive in 57 (16.1% positive). Different chromosomal variants were present in another 6% of this population. Detailed results are presented on the different groups of chromosomal aberrations.
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D002869:Chromosome Aberrations; D007446:Chromosome Inversion; D004314:Down Syndrome / Q000235:genetics; D005260:Female; D005600:Fragile X Syndrome / Q000235:genetics; D014644:Genetic Variation; D006801:Humans; D007326:Institutionalization; D008607:Intellectual Disability / Q000235:genetics*; D007713:Klinefelter Syndrome / Q000235:genetics; D008297:Male; D008875:Middle Aged; D009030:Mosaicism; D012729:Sex Chromosome Aberrations / Q000235:genetics*; D014178:Translocation, Genetic; D014424:Turner Syndrome / Q000235:genetics