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[Phenotypic and mutation analysis of a fetus with Cornelia de Lange syndrome Ⅰ].

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

Lyu Yuan, Liu Caixia, Li Chuang, Li Huan, Li-Ling Jesse, Li Meihui

Abstract excerpt

OBJECTIVE: To carry out genetic testing for an abortus suspected with Cornelia de Lange syndrome (CdLS). METHODS: History of gestation and the family was taken. Combined with prenatal ultrasonography and the phenotype of the abortus, a diagnosis was made for the proband. Fetal tissue and peripheral blood samples of its parents were collected for the extraction of genomic DNA. Whole exome sequencing was carried...

Topics

Cell Cycle Proteins
DNA Mutational Analysis
De Lange Syndrome
Female
Fetus
Humans
Male
Mutation
Phenotype
Pregnancy
Exome Sequencing

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 33423262
DOI: 10.3760/cma.j.cn511374-20191118-00590

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