Apparent regression of the CGG repeat in FMR1 to an allele of normal size.

doi:10.1007/BF00211019

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Article

Apparent regression of the CGG repeat in FMR1 to an allele of normal size.

Human genetics - 1 Nov 1994

Vits L, De Boulle K, Reyniers E, Handig I, Darby J K, Oostra B, Willems P J

Abstract excerpt

The fragile X syndrome is the result of amplification of a CGG trinucleotide repeat in the FMR1 gene and anticipation in this disease is caused by an intergenerational expansion of this repeat. Although regression of a CGG repeat in the premutation range is not uncommon, regression from a full pr...

Topics

Alleles
Female
Fragile X Mental Retardation Protein
Fragile X Syndrome
Haplotypes
Heterozygote
Humans
Male
Mutation
Nerve Tissue Proteins
Pedigree
RNA-Binding Proteins
Repetitive Sequences, Nucleic Acid

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