Article
Chromosome 17q12 duplications: Further delineation of the range of psychiatric and clinical phenotypes.
American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics - 1 Jul 2018
Kamath Arveen, Linden Stefanie C, Evans Ffion M, Hall Jeremy, Jose Sian F, Spillane Sally A, Hardie Alan D R, Morgan Sian M, Pilz Daniela T
Abstract excerpt
Copy number variants at chromosome 17q12 have been associated with a spectrum of phenotypes. Deletions of 17q12 are well described and associated with maturity onset diabetes of the young type 5 (MODY5) and cystic renal disease (HNF1β) as well as cognitive impairment and seizures. Duplication of 17q12 is emerging as a new genetic syndrome, associated with learning disability, seizures, and behavioral problems....
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