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Fragile X syndrome carrier screening in pregnant women in Chinese Han population.

Scientific reports - 29 Oct 2019

Hung Chia-Cheng, Lee Chien-Nan, Wang Yu-Chu, Chen Chih-Ling, Lin Tze-Kang, Su Yi-Ning, Lin Ming-Wei, Kang Jessica, Tai Yi-Yun, Hsu Wen-Wei, Lin Shin-Yu

Abstract excerpt

Fragile X syndrome (FXS) is the most frequent genetic cause of intellectual disability (ID). It was previously believed that the FXS prevalence was low in Chinese population, and the cost-efficiency of FXS carrier screening was questioned. This retrospective observational study was conducted between September 2014 and May 2017 to determine the prevalence of FXS carriers in a large Chinese cohort of pregnant...

Topics

Adult
Alleles
Cost-Benefit Analysis
Ethnicity
Female
Fragile X Syndrome
Genetic Carrier Screening
Humans
Pregnancy
Retrospective Studies
Taiwan

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 31664061
DOI: 10.1038/s41598-019-51726-4
PMCID: PMC6820721

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