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 mate...

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Detalhes bibliográficos
Publicado no:Front Genet
Main Authors: Manor, Esther, Jabareen, Azhar, Magal, Nurit, Kofman, Arei, Hagerman, Randi J., Tassone, Flora
Formato: Artigo
Idioma:Inglês
Publicado em: Frontiers Media S.A. 2017
Assuntos:
Genetics
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5675867/
https://ncbi.nlm.nih.gov/pubmed/29163631
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fgene.2017.00158
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