Parental germline mosaic transmission of 5p13.2 microduplication in two siblings of a Chinese family
Author:
Affiliation:
1. Prenatal Diagnosis Unit, The Third Affiliated Hospital of Sun Yat-sen University, Guangzhou, China
2. Prenatal Diagnosis Center, Guangzhou Women and Children’s Medical Center, Guangzhou, China
Publisher
Informa UK Limited
Subject
Obstetrics and Gynecology
Link
https://www.tandfonline.com/doi/pdf/10.1080/01443615.2021.1959532
Reference10 articles.
1. An Update on Common Chromosome Microdeletion and Microduplication Syndromes
2. 5p13.3p13.2 duplication associated with developmental delay, congenital malformations and chromosome instability manifested as low-level aneuploidy
3. Germline mosaic transmission of a novel duplication of PXDN and MYT1L to two male half-siblings with autism
4. Mosaicism: The embryo as a target for induction of mutations leading to cancer and genetic disease
5. Apparent Germline Mosaicism for a Novel 19p13.13 Deletion DisruptingNFIXandCACNA1A
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