Fragile X Syndrome in a Female With Homozygous Full-Mutation Alleles of the FMR1 Gene.

ABSTRACT: Fragile X syndrome (FXS) has been reported as the leading cause of mental retardation (MR) that predominantly involves males compared to females. An over-expansion of CGG repeats in the 5' untranslated region of the FMR1 gene plays the primary role in this disease. In this study, we encountered a homozygote female patient affected by FMR1 expansion mutation. Surprisingly, she had inherited her full-mutated alleles from two different ancestors. This condition is an extremely rare case of FXS. After accurate genetic counseling, family members were referred to the laboratory for genetic testing. Karyotype with two X chromosomes was the finding after the G-banding study of the proband. Molecular analysis indicated that she was a female with full-mutated or pre-mutated alleles on both of her X

SUBMITTER: Vafaeie F 

PROVIDER: S-EPMC8357243 | biostudies-literature | 2021 Jul

REPOSITORIES: biostudies-literature