Direct DNA testing for fragile X syndrome.

doi:10.1001/archpedi.1993.02160350105016

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Article

Direct DNA testing for fragile X syndrome.

American journal of diseases of children (1960) - 1 Nov 1993

Ramos F J, Eunpu D L, Finucane B, Pfendner E G

Abstract excerpt

The recent identification of an abnormally amplified trinucleotide (cytosine guanine guanine) repeat in the fragile X gene (FMR-1) of males with fragile X syndrome and their carrier mothers allows the study of the mutation in individuals at risk. In this report, data on 396 patients and 35 normal...

Topics

Cytosine Nucleotides
DNA
Female
Fragile X Syndrome
Gene Amplification
Gene Expression
Genetic Linkage
Humans
Intellectual Disability
Male
Mutation
Pedigree
Phenotype
Polymorphism, Restriction Fragment Length

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