OBJECTIVE: Case of an interstitial deletion of the long arm of chromosome 21 presenting with first episode of psychosis. METHOD: A case report. RESULTS: A 16-year-high school student of Somalian origin presented with a first episode of psychosis, mild mental retardation and dysmorphic features. Chromosome analysis revealed an interstitial deletion in the long arm of chromosome 21, described as 46, XX del (21) (q21q22.1). CONCLUSION: First episode of psychosis occurred in combination with neurobiological vulnerability and a complex genetic inheritance. The occurrence of psychosis in our case may be attributable to genes located within the region 21q21q22.1. The possibility that other loci exist on chromosome 21, which predispose to schizophrenia has to be considered. Identification of susceptibility genes will greatly facilitate investigation of factors that contribute to the disease process and may lead to early intervention and prevention.
OBJECTIVE: Case of an interstitial deletion of the long arm of chromosome 21 presenting with first episode of psychosis. METHOD: A case report. RESULTS: A 16-year-high school student of Somalian origin presented with a first episode of psychosis, mild mental retardation and dysmorphic features. Chromosome analysis revealed an interstitial deletion in the long arm of chromosome 21, described as 46, XX del (21) (q21q22.1). CONCLUSION: First episode of psychosis occurred in combination with neurobiological vulnerability and a complex genetic inheritance. The occurrence of psychosis in our case may be attributable to genes located within the region 21q21q22.1. The possibility that other loci exist on chromosome 21, which predispose to schizophrenia has to be considered. Identification of susceptibility genes will greatly facilitate investigation of factors that contribute to the disease process and may lead to early intervention and prevention.
Authors: Elisha D O Roberson; Elizabeth Squibb Wohler; Julie E Hoover-Fong; Emily Lisi; Eric L Stevens; George H Thomas; Jay Leonard; Ada Hamosh; Jonathan Pevsner Journal: Eur J Hum Genet Date: 2010-09-08 Impact factor: 4.246
Authors: Chad R Haldeman-Englert; Kimberly A Chapman; Hillary Kruger; Elizabeth A Geiger; Donna M McDonald-McGinn; Eric Rappaport; Elaine H Zackai; Nancy B Spinner; Tamim H Shaikh Journal: Am J Med Genet A Date: 2010-01 Impact factor: 2.802