Prevalence and Instability of Fragile X Alleles Implications for Offering Fragile X Prenatal Diagnosis.
- Resource Type
- Article
- Authors
- Cronister, Amy; Teicher, Jennifer; Rohlfs, Elizabeth M.; Donnenfeld, Alan; Hallam, Stephanie
- Source
- Obstetrics & Gynecology. Mar2008, Vol. 111 Issue 3, p596-601. 6p. 3 Charts.
- Subject
- *PRENATAL diagnosis
*FRAGILE X syndrome
*X chromosome abnormalities
*X-linked intellectual disabilities
*HUMAN chromosome abnormalities
- Language
- ISSN
- 0029-7844
The article focuses on documenting fragile X allele frequencies in a referral population and evaluation of CGG repeat expansion in mother-offspring pairs. Comparison of carrier frequencies between women aged 18 years and older, and mother-offspring pairs referred for various clinical indications. Results show that invasive prenatal diagnosis is warranted for women with fragile X allele that contains 55 or more CGG repeats than with women with intermediate alleles.