Investigation of the segregation of the fragile X mutation in daughters of obligate carrier women.

doi:10.1002/ajmg.1320300164

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Article

Investigation of the segregation of the fragile X mutation in daughters of obligate carrier women.

American journal of medical genetics - 1 Jan 2000

Sherman S L, Turner G, Robinson H, Laing S

Abstract excerpt

Two reports have suggested that over 50% of the offspring of obligate carrier women receive the mutation for the fra(X) or the Martin-Bell syndrome [Webb et al, 1986; Fryns, 1984]. Such a segregation distortion is difficult to assess for the fra(X) syndrome because of incomplete penetrance, varia...

Topics

Female
Fragile X Syndrome
Genetic Linkage
Heterozygote
Humans
Intellectual Disability
Phenotype
Sex Chromosome Aberrations
X Chromosome

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