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Article

Prenatal diagnosis of fetuses with region of homozygosity detected by single nucleotide polymorphism array: a retrospective cohort study.

Journal of human genetics - 1 Nov 2022

Liang Bin, Yu Donghong, Zhao Wantong, Wang Yan, Wang Xinrui, Wu Xiaoqing, Chen Lingji, Chen Meihuan, Zhang Min, Chen Xuemei, Lin Na, Huang Hailong, Xu Liangpu

Abstract excerpt

Region of homozygosity (ROH) is classified as uniparental disomy (UPD) or identity by descent, depending on its origin. To explore the clinical relevance of ROH in prenatal diagnoses, we reviewed 5063 fetal samples subjected to single nucleotide polymorphism array at our center over 5 years. ROH cases meeting our reporting threshold were further analyzed. ROHs were detected in 22 fetuses (0.43%, 22/5063), of...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 35896820
DOI: 10.1038/s10038-022-01062-9

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