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[Phenotypic and genetic analysis of a boy with 3p26.3-pter deletion and 7q31.33-qter duplication].

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

Feng Liyun, Cai Weiyi, Jiang Jiusheng, Sun Shaohua, Jing Chunli, Yuan Lin

Abstract excerpt

OBJECTIVE: To delineate the nature and origin of chromosomal copy number variants (CNVs) in a boy with mental retardation and multiple congenital malformation. METHODS: The karyotypes of the patient and his parents were analyzed with routine G-banded chromosomal analysis. Genome DNA was analyzed by next generation sequencing (NGS). RESULTS: The patient was found to harbor a structural aberration involving...

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Share to Abnormalities, Multiple
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 30098251
DOI: 10.3760/cma.j.issn.1003-9406.2018.04.017

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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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