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Article

[Molecular cytogenetic study of a case with ring chromosome 15].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Mar 2021

Zhang Jianlin, Yang Yimei, Zhang Junrong, Wang Shanshan, Yao Feng, Zhang Yuquan, Jiang Shenghua

Abstract excerpt

OBJECTIVE: To explore the genetic basis for a patient featuring developmental delay. METHODS: The patient and her parents were subjected to G- and C-banded chromosomal karyotyping analysis. The proband was also analyzed by single nucleotide polymorphism microarray (SNP-array). The result was verified by using fluorescence quantitative PCR (qPCR). RESULTS: The proband's karyotype was ascertained as 46,XX,...

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Identifiers

PMID: 33751532
DOI: 10.3760/cma.j.cn511374-20200214-00080

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