FMR1 fully expanded mutation with minimal methylation in a high functioning fragile X male.

doi:10.1136/jmg.33.5.376

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Article

FMR1 fully expanded mutation with minimal methylation in a high functioning fragile X male.

Journal of medical genetics - 1 May 1996

Wang Z, Taylor A K, Bridge J A

Abstract excerpt

Cytogenetic and molecular genetic analysis of a peripheral blood sample from a 31 year old, non-mentally retarded male with a family history of fragile X syndrome showed unexpected results. Nine percent of cells evaluated cytogenetically expressed a fragile X chromosome and molecular examination...

Topics

Adult
Blotting, Southern
Fragile X Mental Retardation Protein
Fragile X Syndrome
Humans
Male
Methylation
Mutation
Nerve Tissue Proteins
RNA-Binding Proteins
Trinucleotide Repeats

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