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Article

[Prenatal diagnosis of a tetrasomy 18p case using BACs-on-Beads technology and single nucleotide polymorphism array].

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

Jiang Huling, Ping Zepeng, Wang Luming, Jin Yuxia, Li Suping, Liu Xiaodan, Miao Zhengyou

Abstract excerpt

OBJECTIVE: To determine the origin of a supernumerary small marker chromosome found in a fetus using prenatal BACs-on-Beads (BoBs) and single nucleotide polymorphism array (SNP-array) assays. METHODS: The fetal sample was subjected to chromosomal karyotyping and BoBs analysis, and the results were validated with genome-wide scanning using a SNP microarray. RESULTS: The fetus was found to have a 47,XX,+mar...

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Share to Aneuploidy
Share to Chromosomes, Artificial, Bacterial

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Chromosomes, Human, Pair 18

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Share to Polymorphism, Single Nucleotide

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Source

Identifiers

PMID: 29188616
DOI: 10.3760/cma.j.issn.1003-9406.2017.06.016

Genes

LPIN2
SMCHD1
TGIF1

Provenance

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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