Neuropsychological profiles of three sisters homozygous for the fragile X premutation.

doi:10.1002/(SICI)1096-8628(19960809)64:2<323::AID-AJMG18>3.0.CO;2-H

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Article

Neuropsychological profiles of three sisters homozygous for the fragile X premutation.

American journal of medical genetics - 9 Aug 1996

Mazzocco M M, Holden J J

Abstract excerpt

Fragile X syndrome (fraX) is associated with an amplification of a CGG repeat within the fraX mental retardation (FMR-1) gene. We describe an exceptional family in which 3 adult sisters are homozygous for the FMR-1 premutation. Each sister inherited 2 premutation alleles (ca. 80 CGG repeats) from...

Topics

Adult
Cognition
Female
Fragile X Mental Retardation Protein
Fragile X Syndrome
Homozygote
Humans
Male
Memory
Mutation
Nerve Tissue Proteins
Neuropsychological Tests
Nuclear Family
Pedigree
RNA-Binding Proteins
Speech
Trinucleotide Repeats
Wechsler Scales

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