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...
Main Authors: | , , , , , , , |
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Format: | Article |
Language: | English |
Published: |
MDPI AG
2021-05-01
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Series: | Genes |
Subjects: | |
Online Access: | https://www.mdpi.com/2073-4425/12/6/798 |