Prenatal carrier testing for fragile X: counseling issues and challenges.

  title={Prenatal carrier testing for fragile X: counseling issues and challenges.},
  author={Thomas J. Musci and Krista Moyer},
  journal={Obstetrics and gynecology clinics of North America},
  volume={37 1},
  pages={61-70, Table of Contents}
Healthy women who carry a ''premutation'' in the FMR1 gene (or fragile X mental retardation protein) can pass on a further mutated copy of FMR1 to either male or female offspring, leading to fragile X syndrome (FXS). Premutation carriers do not have manifestations of FXS in cognitive deficits, behavioral abnormalities, or classic physical features, but are at increased risk for development of the ''fragile X-associated disorders'': premature ovarian insufficiency and fragile X-associated tremor… CONTINUE READING


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