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[Analysis of genomic copy number variations in fetuses with conotruncal defects using single nucleotide polymorphism array].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Jun 2018

Wang Jin, Zhao Yan, Jin Hua, Tao Jing, Cao Luquan, Cai Yan

Abstract excerpt

OBJECTIVE: To assess the value of single nucleotide polymorphism array (SNP array) for the study of fetuses with conotruncal defects (CTD) detected by echocardiography. METHODS: SNP array was carried out on 75 fetuses with sonographically detected CTD but a normal karyotype. The results were analyzed with ChAS software. RESULTS: Pathogenic CNVs were detected in 7 (9.3%) of all cases. Variant of uncertain...

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Share to DNA Copy Number Variations
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Heart Defects, Congenital

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Share to Polymorphism, Single Nucleotide

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Identifiers

PMID: 29896729
DOI: 10.3760/cma.j.issn.1003-9406.2018.03.009

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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