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Article

[Prenatal diagnosis of a fetus with Miller-Dieker syndrome].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Dec 2017

Xu Liangpu, Huang Hailong, Wang Yan, An Gang, Lin Na, Zhang Min, Wu Xiaoqing, He Deqin, Chen Meihuan, Lin Yuan

Abstract excerpt

OBJECTIVE: To report on prenatal diagnosis of a fetus with Miller-Dieker syndrome (MDS) and explore its genotype - phenotype correlation. METHODS: Chromosome karyotyping, bacterial artificial chromosome on beads (BACs-on-Beads, BoBs), fluorescence in situ hybridization (FISH), and single nucleotide polymorphism microarray (SNP array) were applied in conjunction for the prenatal diagnosis of a fetus with abnormal...

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Share to Chromosome Deletion
Share to Chromosomes, Human, Pair 17

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to In Situ Hybridization, Fluorescence

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Share to Polymorphism, Single Nucleotide

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Source

Identifiers

PMID: 29188621
DOI: 10.3760/cma.j.issn.1003-9406.2017.06.021

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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