Chromosomal abnormalities in a psychiatric population

Am J Med Genet. 1995 Feb 27;60(1):53-4. doi: 10.1002/ajmg.1320600110.


Over a 3.5 year period of time, 345 patients hospitalized for psychiatric problems were evaluated cytogenetically. The patient population included 76% males and 94% children with a mean age of 12 years. The criteria for testing was an undiagnosed etiology for mental retardation and/or autism. Cytogenetic studies identified 11, or 3%, with abnormal karyotypes, including 4 fragile X positive individuals (2 males, 2 females), and 8 with chromosomal aneuploidy, rearrangements, or deletions. While individuals with chromosomal abnormalities do not demonstrate specific behavioral, psychiatric, or developmental problems relative to other psychiatric patients, our results demonstrate the need for an increased awareness to order chromosomal analysis and fragile X testing in those individuals who have combinations of behavioral/psychiatric, learning, communication, or cognitive disturbance.

MeSH terms

  • Adolescent
  • Adult
  • Aneuploidy
  • Autistic Disorder / genetics
  • Child
  • Chromosome Aberrations*
  • Chromosome Deletion
  • Chromosome Disorders*
  • Cytogenetics
  • Female
  • Fragile X Syndrome / genetics
  • Humans
  • Intellectual Disability / genetics
  • Male
  • Mental Disorders / genetics*