Cytogenetic abnormalities in attention-deficit/hyperactivity disorder

J Am Acad Child Adolesc Psychiatry. 2002 Jul;41(7):806-10. doi: 10.1097/00004583-200207000-00012.


Objective: To systematically assess the prevalence of fragile X syndrome, velocardiofacial syndrome, and other cytogenetic abnormalities in a group of children with attention-defict/hyperactivity disorder (ADHD).

Method: Blood samples were obtained from 100 children (64 boys) with combined type ADHD and normal intelligence and analyzed for the presence of fragile X mutation expansions, the 22q11.2 microdeletion associated with velocardiofacial syndrome, and cytogenetic abnormalities that would be detected with high resolution chromosomal banding.

Results: One girl with ADHD had a sex chromosome aneuploidy (47,XXX). One boy had a premutation-sized allele for fragile X; no subjects showed the full mutation. Testing for 22q11.2 microdeletion was negative for all subjects with ADHD screened. None of these differences exceeded those expected by chance.

Conclusions: In the absence of clinical signs or positive family history, these relatively expensive laboratory assessments are not clinically indicated for children with ADHD and normal intelligence, and are not recommended as a component of other genetic investigations of this disorder.

MeSH terms

  • Abnormalities, Multiple
  • Attention Deficit Disorder with Hyperactivity / epidemiology
  • Attention Deficit Disorder with Hyperactivity / genetics*
  • Child
  • Chromosomes, Human, Pair 22 / genetics
  • Cytogenetics / methods*
  • Face / abnormalities
  • Female
  • Fragile X Syndrome / epidemiology
  • Fragile X Syndrome / genetics*
  • Heart Defects, Congenital / epidemiology
  • Humans
  • Male
  • Palate, Soft / abnormalities
  • Syndrome