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[Prenatal diagnosis of a fetus with Phelan-McDermid syndrome and 21q21 microdeletion by multiple genetic techniques].

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

Shen Huaxiang, Li Suping, Jin Yuxia

Abstract excerpt

OBJECTIVE: To carry out prenatal diagnose for a fetus with ultrasonography abnormalities using multiple genetic techniques. METHODS: Routine G-banding chromosomal analysis and single nucleotide polymorphism array (SNP-array) were applied in conjunction for the prenatal diagnosis of the fetus. The result was confirmed by fluorescence in situ hybridization (FISH). RESULTS: SNP-array detected that the fetus has...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 33306829
DOI: 10.3760/cma.j.cn511374-20200303-00123

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