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

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 <i>FMR1</i> 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...

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Bibliographic Details
Main Authors: Alison Pandelache, David Francis, Ralph Oertel, Rebecca Dickson, Rani Sachdev, Ling Ling, Dinusha Gamage, David E. Godler
Format: Article
Language:English
Published: MDPI AG 2021-05-01
Series:Genes
Subjects:
fragile
X syndrome
FMR1
mosaicism
CGG
cultured chorionic villus
Online Access:https://www.mdpi.com/2073-4425/12/6/798

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https://www.mdpi.com/2073-4425/12/6/798

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