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Article

A 15-year-long Southern blotting analysis of FMR1 to detect female carriers and for prenatal diagnosis of fragile X syndrome in Taiwan.

Clinical genetics - 1 Aug 2017

Tzeng C-C, Tsai L-P, Chang Y-K, Hung Y-J, Chang Y-Y, Su Y-P, Jiang J-J, Liang H-M

Abstract excerpt

Here, we review the results of Southern blotting analyses of the FMR1 gene performed in our reference laboratory in Taiwan over a 15-year period. In total, 725 high-risk women with a family history of fragile X syndrome (FXS) or idiopathic intellectual disability, 3911 low-risk pregnant women without such family history, and prenatal diagnosis data for 32 foetuses from 24 carrier mothers were included. Only 2...

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Identifiers

PMID: 28139839
DOI: 10.1111/cge.12981

Genes

FMR1

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