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Article

[Genetic analysis of an adult with mosaicism of uniparental disomy 11p].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Dec 2019

Xin Yalan, Fang Hui, Yuan Penghui, Jiang Yushen

Abstract excerpt

OBJECTIVE: To analyze the clinical phenotype and genomic abnormality of an adult featuring congenital heart defect and multiple developmental disorders. METHODS: The patient was subjected to conventional G-banding chromosomal karyotyping and single nucleotide polymorphism microarray (SNP-array) analysis. RESULTS: The patient showed a normal karyotype, while SNP-array revealed a 42.7 Mb mosaic uniparental disomy...

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Source

Identifiers

PMID: 31813152
DOI: 10.3760/cma.j.issn.1003-9406.2019.12.017

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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