Article
No mental retardation in a man with 40% abnormal methylation at the FMR-1 locus and transmission of sperm cell mutations as premutations.
Human molecular genetics - 1 Jun 1994
Rousseau F, Robb L J, Rouillard P, Der Kaloustian V M
Abstract excerpt
We report the case of a mentally normal male carrier of a fragile X full mutation with a 'methylation mosaic' hybridization pattern, who carried premutation-size mutations in his sperm cells and transmitted one of them to a daughter. Clinical evaluation of the father revealed a phenotype resembling that of the fragile X syndrome but without mental impairment and 4% fragile sites on cytogenetic analysis. Direct...
Topics
- Adult
- Child
- DNA
- Female
- Fragile X Mental Retardation Protein
- Fragile X Syndrome
- Genetic Carrier Screening
- Humans
- Intellectual Disability
- Leukocytes
- Male