Exome and genome sequencing to unravel the precise breakpoints of partial trisomy 6q and partial Monosomy 2q

Exome and genome sequencing to unravel the precise breakpoints of partial trisomy 6q and partial Monosomy 2q

Abstract Background Patients with complex phenotypes and a chromosomal translocation are particularly challenging, since several potentially pathogenic mechanisms need to be investigated. Case presentation Here, we combined exome and genome sequencing techniques to identify the precise breakpoints o...

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Main Authors: Shuang Zhang (Author), Qianwei Cui (Author), Shangying Yang (Author), Fangxia Zhang (Author), Chunxia Li (Author), Xiaoguang Wang (Author), Bo Lei (Author), Xunlun Sheng (Author)
Format: Book
Published: BMC, 2023-11-01T00:00:00Z.
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