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提醒:ScientificCommons.org
【标题】Autistic disorder associated with a paternally derived unbalanced translocation leading to duplication of chromosome 15pter-q13.2: a case report.
【摘要】[wu, david j wang, nicholas j driscoll, jennette dorrani, naghmeh liu, dahai sigman, marian schanen,...] 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 chromosome 15q13.2 and chromosome 9q34.12, which led to trisomy of chromosome 15pter-q13.2 and ... (04-16 20:54)