Prenatal diagnosis of rearrangements in the fetal 22q11.2 region

Prenatal diagnosis of rearrangements in the fetal 22q11.2 region

Abstract Background 22q11.2 deletion syndrome (22q11.2DS) and 22q11.2 duplication syndrome (22q11.2DupS) are the most common copy number variations in humans. The clinical phenotypes of these two syndromes are variable, and there are no large sample data on the prenatal detection rate for these two...

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Bibliographic Details
Main Authors: Suping Li, Yuxia Jin, Jing Yang, Li Yang, Ping Tang, Chiyan Zhou, Liping Wu, Jinhua Dong, Jie Chen, Huaxiang Shen
Format: Article
Language:English
Published: BMC 2020-07-01
Series:Molecular Cytogenetics
Subjects:
22q11.2 deletion syndrome
22q11.2 duplication syndrome
Prenatal diagnosis
Single-nucleotide polymorphism-array analysis
Chromosome analysis
Online Access:http://link.springer.com/article/10.1186/s13039-020-00498-y

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http://link.springer.com/article/10.1186/s13039-020-00498-y

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