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

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

Abstract 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 l...

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Bibliographic Details
Main Authors: Pingping Zhang, Yanmei Sun, Ping Huo, Haishen Tian, Jian Gao, Yali Li
Format: Article
Language:English
Published: BMC 2020-04-01
Series:Molecular Cytogenetics
Subjects:
Variant of unknown significance
Deletion of 4q32.2q32.3
Chromosomal microarray analysis
Genetic counselling
Online Access:http://link.springer.com/article/10.1186/s13039-020-00480-8

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http://link.springer.com/article/10.1186/s13039-020-00480-8

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