Article

Population-based Carrier Screening and Prenatal Diagnosis of Fragile X Syndrome in East Asian Populations

2020-09-11

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 incidence of full mutation fetuses in carrier pregnancies wer...

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Literature Corpus work: d9f626ea-64f0-5959-b885-290938addcfb
DOI: 10.1101/2020.09.10.292219

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