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Examination of factors that influence the expansion of the fragile X mutation in a sample of conceptuses from known carrier females.

Publication ,  Journal Article
Sherman, SL; Meadows, KL; Ashley, AE
Published in: Am J Med Genet
August 9, 1996

The Collaborative Prospective Fragile X Study was established to collect information on the pregnancy outcome of women known to be carriers of the fragile X syndrome. The prospective design of this study allows collection of ascertainment-free data and, thereby, avoids biases caused by sampling problems encountered in retrospective family studies. The results of 337 submitted cases are summarized. These data show that the segregation of the fragile X mutation is normal and the sex ratio of conceptuses is as expected for a prenatal sample. There is no excess of dizygotic twinning among the pre- or full mutation carrier females. Data are limited at this time but provide a suggestion that the risk of expansion to the full mutation may be correlated with maternal age and to the parental origin of premutation of carrier women. More data are needed to confirm these suggested trends. The prospective data base provides a valuable resource to continue to examine factors in an unbiased fashion.

Duke Scholars

Published In

Am J Med Genet

DOI

ISSN

0148-7299

Publication Date

August 9, 1996

Volume

64

Issue

2

Start / End Page

256 / 260

Location

United States

Related Subject Headings

  • Twins, Dizygotic
  • Trinucleotide Repeats
  • Sex Ratio
  • Risk Factors
  • Retrospective Studies
  • Prospective Studies
  • Pregnancy
  • Mutation
  • Maternal Age
  • Male
 

Citation

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Sherman, S. L., Meadows, K. L., & Ashley, A. E. (1996). Examination of factors that influence the expansion of the fragile X mutation in a sample of conceptuses from known carrier females. Am J Med Genet, 64(2), 256–260. https://doi.org/10.1002/(SICI)1096-8628(19960809)64:2<256::AID-AJMG4>3.0.CO;2-S
Sherman, S. L., K. L. Meadows, and A. E. Ashley. “Examination of factors that influence the expansion of the fragile X mutation in a sample of conceptuses from known carrier females.Am J Med Genet 64, no. 2 (August 9, 1996): 256–60. https://doi.org/10.1002/(SICI)1096-8628(19960809)64:2<256::AID-AJMG4>3.0.CO;2-S.
Sherman, S. L., et al. “Examination of factors that influence the expansion of the fragile X mutation in a sample of conceptuses from known carrier females.Am J Med Genet, vol. 64, no. 2, Aug. 1996, pp. 256–60. Pubmed, doi:10.1002/(SICI)1096-8628(19960809)64:2<256::AID-AJMG4>3.0.CO;2-S.

Published In

Am J Med Genet

DOI

ISSN

0148-7299

Publication Date

August 9, 1996

Volume

64

Issue

2

Start / End Page

256 / 260

Location

United States

Related Subject Headings

  • Twins, Dizygotic
  • Trinucleotide Repeats
  • Sex Ratio
  • Risk Factors
  • Retrospective Studies
  • Prospective Studies
  • Pregnancy
  • Mutation
  • Maternal Age
  • Male