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- W4236683256 abstract "Mutations of the fragile X mental retardation 1 gene, including both premutation and full-mutation CGG-repeat expansions, give rise to a broad spectrum of cognitive impairment, which ranges from intellectual disability and autism to mild learning or emotional difficulties in the context of normal IQ. This chapter describes the abnormally elevated mRNA triggers a cascade of events in neural cells that ultimately leads to the clinical involvement. It reviews epidemiology, clinical involvement, genetic counseling, prenatal diagnostic procedures, and treatment in the fragile X spectrum disorders. The premutation was originally thought to have no phenotype, and males with the premutation were described as nonpenetrant males or normal transmitting males. Several lines of evidence indicate that the pathogenesis of tremor/ataxia syndrome involves a “toxic” gain-of-function of the FMR1 mRNA. An alternative to chorionic villus sampling and amniocentesis for prenatal diagnosis is preimplantation genetic diagnosis using polar body analysis." @default.
- W4236683256 created "2022-05-12" @default.
- W4236683256 creator A5061384110 @default.
- W4236683256 creator A5086196058 @default.
- W4236683256 date "2021-04-20" @default.
- W4236683256 modified "2023-09-25" @default.
- W4236683256 title "Prenatal Diagnosis and the Spectrum of Involvement from Fragile X Mutations" @default.
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