A prenatal diagnosis and genetics study of five pedigrees in the Chinese population with Xp22.31 microduplication

Abstract Background Copy number variations (CNVs) can contribute to human phenotype, phenotypic diversity and disease susceptibility, while others may benign. In the current study, an attempt to investigate the pathogenicity of CNVs in chromosome Xp22.31 was explored. Methods G-banding and SNP-array...

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Hlavní autoři:	Jianlong Zhuang, Yuanbai Wang, Shuhong Zeng, Chunling Lv, Yiming Lin, Yuying Jiang
Médium:	Artigo
Jazyk:	Inglês
Vydáno:	BMC 2019-12-01
Edice:	Molecular Cytogenetics
Témata:	Xp22.31 Microduplication Polymorphism, single nucleotide Prenatal diagnosis
On-line přístup:	https://doi.org/10.1186/s13039-019-0461-1
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