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

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