Article
Mapping Breakpoints of Complex Chromosome Rearrangements Involving a Partial Trisomy 15q23.1-q26.2 Revealed by Next Generation Sequencing and Conventional Techniques.
PloS one - 1 Jan 2016
Pan Qiong, Hu Hao, Han Liangrong, Jing Xin, Liu Hailiang, Yang Chuanchun, Zhang Fengting, Hu Yue, Yue Hongni, Ning Ying
Abstract excerpt
Complex chromosome rearrangements (CCRs), which are rather rare in the whole population, may be associated with aberrant phenotypes. Next-generation sequencing (NGS) and conventional techniques, could be used to reveal specific CCRs for better genetic counseling. We report the CCRs of a girl and her mother, which were identified using a combination of NGS and conventional techniques including G-banding,...
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