11q13.3q13.4 deletion plus 9q21.13q21.33 duplication in an affected girl arising from a familial four ‐way balanced chromosomal translocation

ConclusionsOur case highlights the importance of timely parental origin testing for patients with rare copy number variations, as well as the accurate characterization of balanced chromosomal rearrangements in families with reproductive problems. In addition, our case demonstrates that OGM is a useful clinical application for analyzing complex structural variations within the human genome.

Source: Molecular Genetics & Genomic Medicine - July 21, 2023 Category: Genetics & Stem Cells Authors: Qinxin Zhang, Yan Wang, Jing Zhou, Ran Zhou, An Liu, Lulu Meng, Xiuqing Ji, Ping Hu, Zhengfeng Xu Tags: CLINICAL REPORT Source Type: research