Prenatal Diagnosis of Fragile X Syndrome in a Twin Pregnancy Complicated by a Complete Retraction

Prenatal Diagnosis of Fragile X Syndrome in a Twin Pregnancy Complicated by a Complete Retraction

Fragile X syndrome (FXS) is usually associated with a CGG repeat expansion >200 repeats within the FMR1 gene, known as a full mutation (FM). FM alleles produce abnormal methylation of the FMR1 promoter with reduction or silencing of FMR1 gene expression. Furthermore, premutation (PM: 55&n...

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Bibliographic Details
Main Authors: Yael Prawer, Matthew Hunter, Sara Cronin, Ling Ling, Solange Aliaga Vera, Michael Fahey, Nikki Gelfand, Ralph Oertel, Essra Bartlett, David Francis, David Godler
Format: Article
Language:English
Published: MDPI AG 2018-06-01
Series:Genes
Subjects:
fragile-X syndrome
FMR1 gene
methylation
mosaicism
expansion
retraction
Online Access:http://www.mdpi.com/2073-4425/9/6/287

Internet

http://www.mdpi.com/2073-4425/9/6/287

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