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[Clinical phenotype and genetic analysis of a patient with 12q22-qter duplication and Xq23-qter deletion caused by maternal balanced translocation].

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

Zhan Fushou, Wan Yan, Ma Yijing, Song Xumei, Jia Wei

Abstract excerpt

OBJECTIVE: To explore the clinical phenotype and genetic diagnosis of a patient featuring secondary amenorrhea, breast dysplasia and mental retardation. METHODS: Peripheral venous blood samples were collected from the patient and her family members and subjected to G-banding karyotyping and single nucleotide polymorphism array (SNP-array) analysis. RESULTS: The patient was found to have a karyotype of...

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PMID: 32761595
DOI: 10.3760/cma.j.issn.1003-9406.2020.08.013

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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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