Prenatal diagnosis of a maternal 7.22-Mb deletion at chromosome 4q32.2q32.3 by SNP array

BACKGROUND: Although Chromosomal microarray analysis (CMA) is a powerful diagnostic technology for detecting chromosomal copy number variants (CNVs), it detects numerous variants of unknown significance (VUSs), which poses a great challenge for genetic counselling. Terminal deletion of the long arm...

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Udgivet i:Mol Cytogenet
Main Authors: Zhang, Pingping, Sun, Yanmei, Huo, Ping, Tian, Haishen, Gao, Jian, Li, Yali
Format: Artigo
Sprog:Inglês
Udgivet: BioMed Central 2020
Fag:
Case Report
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC7149929/
https://ncbi.nlm.nih.gov/pubmed/32308739
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13039-020-00480-8
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