Cytogenetic findings in moderate and severe mental retardation. A study of an institutionalized population of 1991 patients

Acta Paediatr Scand Suppl. 1984:313:1-23.

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

  • Adolescent
  • Adult
  • Child
  • Child, Preschool
  • Chromosome Aberrations*
  • Chromosome Inversion
  • Down Syndrome / genetics
  • Female
  • Fragile X Syndrome / genetics
  • Genetic Variation
  • Humans
  • Institutionalization
  • Intellectual Disability / genetics*
  • Klinefelter Syndrome / genetics
  • Male
  • Middle Aged
  • Mosaicism
  • Sex Chromosome Aberrations / genetics*
  • Translocation, Genetic
  • Turner Syndrome / genetics