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

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 techni...

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Bibliografiske detaljer
Udgivet i:Mol Cytogenet
Main Authors: Zhuang, Jianlong, Wang, Yuanbai, Zeng, Shuhong, Lv, Chunling, Lin, Yiming, Jiang, Yuying
Format: Artigo
Sprog:Inglês
Udgivet: BioMed Central 2019
Fag:
Research
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC6907354/
https://ncbi.nlm.nih.gov/pubmed/31857824
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13039-019-0461-1
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