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Article

[Clinical features and genetic analysis of two cases with 16p13.3 microdeletion and 19q13.4 microduplication derived from familial cryptic balanced translocation].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 1 Aug 2016

Xu Huihui, Ji Xing, Ni Lin, Zhu Yue, Chen Yingwei, Xiao Bing

Abstract excerpt

OBJECTIVE: To determine the genetic cause for two mentally retarded patients from a family, and to correlate their genotypes with clinical phenotypes. METHODS: Routine G-banded karyotyping analysis was performed. Single nucleotide polymorphism (SNP) microarray analysis was used to detect microdeletions or microduplications. Fluorescence in situ hybridization (FISH) was used to ascertain the origin of chromosomal...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 27455004
DOI: 10.3760/cma.j.issn.1003-9406.2016.04.013

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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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