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Population-based carrier screening and prenatal diagnosis of fragile X syndrome in East Asian populations.

Journal of genetics and genomics = Yi chuan xue bao - 1 Dec 2021

Guo Qiwei, Chang Yih-Yuan, Huang Chien-Hao, Hsiao Yu-Shan, Hsiao Yu-Chiao, Chiu I-Fan, Zhou Yulin, Zhang Haixia, Ko Tsang-Ming

Abstract excerpt

Identification of carriers of fragile X syndrome (FXS) with the subsequent prenatal diagnosis and knowledge of FXS-associated genetic profiles are essential for intervention in specific populations. We report the results of carrier screening of 39,458 East Asian adult women and prenatal diagnosis from 87 FXS carriers. The prevalence of FXS carriers and full mutation fetuses was estimated to be 1/581 and 1/3124 in...

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PMID: 34412977
DOI: 10.1016/j.jgg.2021.04.012

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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