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How Are SNP-Array, Karyotyping, and FISH Applied in Prenatal Practice? A Focus on Diagnosis of Mosaicism Involving the Sex Chromosomes.

Prenatal diagnosis - 1 Jul 2026

Luo Xiaojin, Niu Hongyan, Chen Xiaohang, Zhou Fei, Cong Xiaoyi, Li Shuangwu, Pei Yuanyuan, Chang Liang, Liu Weiqiang, Wei Fengxiang

Abstract excerpt

OBJECTIVE: This study conducted a comparative analysis of chromosomal karyotyping, SNP-array, and FISH results in 82 prenatal cases of mosaicism involving the sex chromosomes. METHODS: A retrospective analysis was conducted on 82 cases of mosaicism involving the sex chromosomes; the analysis focused on the concordance and discrepancies among karyotyping, SNP-array, and FISH results. RESULTS: Among 10,825...

Topics

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Amniocentesis
Chromosomes, Human, X
In Situ Hybridization, Fluorescence
Karyotyping
Mosaicism

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Prenatal Diagnosis

Sex Chromosome Aberrations

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Identifiers

PMID: 41997698
DOI: 10.1002/pd.70160
PMCID: PMC13377366

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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