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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Bibliographic Details
Main Authors: Shuang Zhang, Qianwei Cui, Shangying Yang, Fangxia Zhang, Chunxia Li, Xiaoguang Wang, Bo Lei, Xunlun Sheng
Format: Article
Language:English
Published: BMC 2023-11-01
Series:BMC Pediatrics
Subjects:
Structural variations
2q
6q
Chromosome translocation
Copy number variation
Partial trisomy 6q
Online Access:https://doi.org/10.1186/s12887-023-04368-5

Internet

https://doi.org/10.1186/s12887-023-04368-5

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