A recognisable behavioural phenotype associated with terminal deletions of the short arm of chromosome 8

Am J Med Genet. 1997 Sep 19;74(5):515-20. doi: 10.1002/(sici)1096-8628(19970919)74:5<515::aid-ajmg12>3.0.co;2-f.


We report the clinical findings in 5 patients with a terminal deletion of the short arm of chromosome 8. Mild developmental delay was constantly present, in association with microcephaly in 4 of 5 patients. Facial anomalies were mild or absent. A congenital heart defect was present in 3 patients: an atrioventricular septal defect (AVSD) in 2 and an atrial septal defect type II (ASDII) with pulmonary stenosis in one. A highly similar pattern of behavioural difficulties was present in the 3 older children (8-11 years), with outbursts of aggressiveness and destructive behaviour. Follow-up in one patient showed that at the age of 16 years, these behavioural problems had largely disappeared. This observation suggests that in addition to mental retardation, microcephaly, congenital heart defect (typically AVSD), a terminal deletion of chromosome 8p may be associated with a characteristic behavioural phenotype during childhood.

Publication types

  • Case Reports

MeSH terms

  • Behavioral Symptoms / genetics
  • Child
  • Child Behavior*
  • Chromosome Aberrations / genetics*
  • Chromosome Deletion*
  • Chromosomes, Human, Pair 8*
  • Female
  • Follow-Up Studies
  • Heart Defects, Congenital / genetics
  • Heart Defects, Congenital / psychology
  • Humans
  • Infant
  • Infant, Newborn
  • Intellectual Disability / genetics
  • Intellectual Disability / psychology
  • Male
  • Microcephaly / genetics
  • Microcephaly / psychology
  • Phenotype*