Autistic disorder associated with a paternally derived unbalanced translocation leading to duplication of chromosome 15pter-q13.2: a case report

Autism spectrum disorders have been associated with maternally derived duplications that involve the imprinted region on the proximal long arm of chromosome 15. Here we describe a boy with a chromosome 15 duplication arising from a 3:1 segregation error of a paternally derived translocation between...

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Hlavní autoři: Wu, David J, Wang, Nicholas J, Driscoll, Jennette, Dorrani, Naghmeh, Liu, Dahai, Sigman, Marian, Schanen, N Carolyn
Médium: Artigo
Jazyk:Inglês
Vydáno: BioMed Central 2009
Témata:
Case report
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC2803171/
https://ncbi.nlm.nih.gov/pubmed/20021661
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1755-8166-2-27
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