Notes on the population genetics of fragile X syndrome.

doi:10.1002/ajmg.1320430152

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Article

Notes on the population genetics of fragile X syndrome.

American journal of medical genetics - 1 Jan 2000

Vianna-Morgante A M, Otto P A

Abstract excerpt

Our analysis of fragile X-inactivation in normal and mentally retarded heterozygotes led us to conclude that a fraction of female carriers of the imprinted (fully mutated) allele is phenotypically normal as a consequence of X-inactivation. Taking this into account, we derived equilibrium equation...

Topics

Dosage Compensation, Genetic
Female
Fragile X Syndrome
Genetics, Population
Genotype
Heterozygote
Humans
Male
Models, Genetic
Oogenesis
Phenotype

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