title: A multidisciplinary diagnostic/genetic study on the 105 patients with mental retardation of the E.S. Le Grange School.
abstract: A comprehensive genetic/diagnostic survey was undertaken at a special school for the mentally retarded involving 105 patients. Cytogenetic, biochemical and clinical investigations were undertaken to establish the contribution of the genetic factors to the problem of mental retardation. Apart from obtaining information about specific children, identifying families at risk, and providing genetic counselling in nearly 50% of cases, data was obtained which could be compared with other similar surveys. According to the aetiological groupings of the patients, 6.7% could be attributed to perinatal damage, 17.1% to chromosomal defects, 4.8% to biochemical disorders, 5.7% to other genetic causes, 12.4% to other prenatal damage, 1.9% to infections, and 51.4% to unknown causes. No individual with the marker X syndrome was found in this group.
authors.forename: J
authors.initials: J
authors.lastname: Op't Hof
authors.forename: P A
authors.initials: PA
authors.lastname: Venter
authors.forename: J L
authors.initials: JL
authors.lastname: Du Toit
authors.forename: G G
authors.initials: GG
authors.lastname: Gericke
authors.forename: B
authors.initials: B
authors.lastname: Dawson
authors.forename: D J
authors.initials: DJ
authors.lastname: Coetzee
authors.forename: L J
authors.initials: LJ
authors.lastname: Mienie
authors.forename: C H
authors.initials: CH
authors.lastname: Marais
authors.forename: C J
authors.initials: CJ
authors.lastname: Reinecke
mesh_terms: D000293:Adolescent; D000328:Adult; D000592:Amino Acid Metabolism, Inborn Errors / Q000235:genetics; D000596:Amino Acids / Q000652:urine; D002648:Child; D002675:Child, Preschool; D002869:Chromosome Aberrations / Q000235:genetics; D025063:Chromosome Disorders; D004314:Down Syndrome / Q000235:genetics; D004827:Epilepsy / Q000235:genetics; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000175:diagnosis / Q000235:genetics*; D012729:Sex Chromosome Aberrations / Q000235:genetics; D013019:South Africa; D014960:X Chromosome
chemical_list: D000596:Amino Acids