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Article

[Phenotypic and genetic analysis of a boy with a 10p15.3 deletion and partial trisomy 18p syndrome].

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

Zhang Bo, Kong Jinghui, Mei Shiyue, Li Dongxiao, Song Yinsen

Abstract excerpt

OBJECTIVE: To delineate the nature and origin of chromosomal aberration in a girl with mental retardation. METHODS: Genomic DNA was analyzed by using single nucleotide polymorphism-based array (SNP array). The proband and her parents were subjected to routine G-banded chromosomal karyotyping analysis. RESULTS: SNP array has identified a 1.2 Mb microdeletion at 10p15.3 and a duplication at 18p11.21-pter in the...

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Source

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PMID: 32619265
DOI: 10.3760/cma.j.issn.1003-9406.2020.07.020

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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