PREMATURE OVARIAN FAILURE AND FRAGILE X PREMUTATION
✍ Scribed by J.P. Almeida; C. Carnide; S. Ferreira; F. Geraldes; F. Águas; I. Marques
- Book ID
- 117532600
- Publisher
- Elsevier Science
- Year
- 2009
- Tongue
- English
- Weight
- 60 KB
- Volume
- 63
- Category
- Article
- ISSN
- 0378-5122
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## Abstract Since only 20% of female fragile X premutation carriers develop premature ovarian failure (POF, i.e., amenorrhea before age of 40 years), and since X chromosome inactivation (XCI) determines the phenotypic severity of full mutation women, we reasoned that the development of POF in fragi
Early menopause in the fragile X carriers has been well documented in several reports. All surveys demonstrated that 13-25% of fragile X carriers experienced premature ovarian failure (POF), defined as menopause before the age of 40 years. In 1995 we started screening two groups of subjects as a par