Prenatal Diagnosis of Fragile X: Can a Full Mutation Allele in the FMR1 Gene Contract to a Normal Size?

Prenatal Diagnosis of Fragile X: Can a Full Mutation Allele in the FMR1 Gene Contract to a Normal Size?

Here we describe a case of a prenatal diagnosis of a male fetus that inherited the unstable allele from his full mutation mosaic mother (29, 160, >200 CGG repeats) reduced to a normal size range (19 CGG repeats). Haplotype analysis showed that the fetus 19 CGG repeats allele derived from the...

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Bibliographic Details
Main Authors: Esther Manor, Azhar Jabareen, Nurit Magal, Arei Kofman, Randi J. Hagerman, Flora Tassone
Format: Article
Language:English
Published: Frontiers Media S.A. 2017-11-01
Series:Frontiers in Genetics
Subjects:
prenatal diagnosis
FMR1 gene
instability
expansion
contraction
Online Access:http://journal.frontiersin.org/article/10.3389/fgene.2017.00158/full

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