Home > D. Systemic pathology > Genetic and developmental anomalies > Chromosomal diseases > Regional duplications > dup(22)(q13.1q13.2)

dup(22)(q13.1q13.2)

Monday 16 June 2008

Synopsis

- prominent forehead
- small low-set ears
- hypertelorism
- epicanthal folds
- small palpebral fissures
- short philtrum
- syndactyly

- MRI of the brain

  • high signal abnormalities in the periventricular white matter
  • hypoplastic corpus callosum
  • under-rotated hippocampus
  • atrophic hippocampus

See also

- chromosome imbalances
- gene dosage effects
- psychiatric disorders
- submicroscopic imbalances
- behavioral phenotypes
- complex behavioral traits

References

- Pramparo T, de Gregori M, Gimelli S, Ciccone R, Frondizi D, Liehr T, Pellacani S, Masi G, Brovedani P, Zuffardi O, Guerrini R. A 7 Mb duplication at 22q13 in a girl with bipolar disorder and hippocampal malformation. Am J Med Genet A. 2008 Jun 10. PMID: #18546282#