Article
Characterization of a de novo translocation t(5;18)(q33.1;q12.1) in an autistic boy identifies a breakpoint close to SH3TC2, ADRB2, and HTR4 on 5q, and within the desmocollin gene cluster on 18q.
American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics - 5 Sept 2009
Vincent John B, Noor Abdul, Windpassinger Christian, Gianakopoulos Peter J, Schwarzbraun Thomas, Alfred Simon E, Stachowiak Beata, Scherer Stephen W, Roberts Wendy, Wagner Klaus, Kroisel Peter M, Petek Erwin
Abstract excerpt
We have recently reported the identification of a de novo balanced translocation t(5;18)(q33.1;q12.1) in a boy with autism. Here we discuss the identification of the breakpoints on chromosomes 5 and 18, and subsequent genomic and candidate gene analyses. The 18q breakpoint lies between desmocolli...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.