Detection of Cryptic Fragile X Full Mutation Alleles by Southern Blot in a Female and Her Foetal DNA via Chorionic Villus Sampling, Complicated by Mosaicism for 45,X0/46,XX/47,XXX

We describe a female with a 72 CGG FMR1 premutation (PM) (CGG 55–199) and family history of fragile X syndrome (FXS), referred for prenatal testing. The proband had a high risk of having an affected pregnancy with a full mutation allele (FM) (CGG > 200), that causes FXS through hypermethylation o...

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Detalles Bibliográficos
Autores principales: Pandelache, Alison, Francis, David, Oertel, Ralph, Dickson, Rebecca, Sachdev, Rani, Ling, Ling, Gamage, Dinusha, Godler, David E.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8225079/
https://www.ncbi.nlm.nih.gov/pubmed/34073864
http://dx.doi.org/10.3390/genes12060798

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8225079/
https://www.ncbi.nlm.nih.gov/pubmed/34073864
http://dx.doi.org/10.3390/genes12060798

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