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Article

[Clinical phenotype and genetic analysis of three pedigrees with 17q12 microdeletion syndrome].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Apr 2020

Wu Qinghua, Yang Saisai, Wang Can, Shi Huirong, Kong Xiangdong, Ren Shumin, Jiao Zhihui, Liu Ning, Shi Panlai

Abstract excerpt

OBJECTIVE: To explore the genetic etiology of three pedigrees with a gestational history of fetal renal anomalies. METHODS: Peripheral venous blood or skin samples were derived from the probands of the three pedigrees. Copy number variation sequencing (CNV-seq) was applied to detect alterations of genome CNVs. RESULTS: The patient from pedigree 1 and the fetuses from pedigrees 2 and 3 all carried a heterozygous...

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Share to Chromosome Deletion
Share to Chromosomes, Human, Pair 17

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Hepatocyte Nuclear Factor 1-beta

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Source

Identifiers

PMID: 32219821
DOI: 10.3760/cma.j.issn.1003-9406.2020.04.008

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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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