Article
The multiple de novo copy number variant (MdnCNV) phenomenon presents with peri-zygotic DNA mutational signatures and multilocus pathogenic variation.
Genome medicine - 27 Oct 2022
Du Haowei, Jolly Angad, Grochowski Christopher M, Yuan Bo, Dawood Moez, Jhangiani Shalini N, Li He, Muzny Donna, Fatih Jawid M, Coban-Akdemir Zeynep, Carlin Mary Esther, Scheuerle Angela E, Witzl Karin, Posey Jennifer E, Pendleton Matthew, Harrington Eoghan, Juul Sissel, Hastings P J, Bi Weimin, Gibbs Richard A, Sedlazeck Fritz J, Lupski James R, Carvalho Claudia M B, Liu Pengfei
Abstract excerpt
BACKGROUND: The multiple de novo copy number variant (MdnCNV) phenotype is described by having four or more constitutional de novo CNVs (dnCNVs) arising independently throughout the human genome within one generation. It is a rare peri-zygotic mutational event, previously reported to be seen once in every 12,000 individuals referred for genome-wide chromosomal microarray analysis due to congenital abnormalities....
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