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Premature Ovarian Failure among Fragile X Premutation Carriers: Parent-of-Origin Effect?

โœ Scribed by Stephanie L. Sherman

Book ID
117853357
Publisher
American Society of Human Genetics
Year
2000
Tongue
English
Weight
104 KB
Volume
67
Category
Article
ISSN
0002-9297

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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

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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