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Article

X chromosome inactivation does not define the development of premature ovarian failure in fragile X premutation carriers.

American journal of medical genetics. Part A - 1 Feb 2010

Spath Marian A, Nillesen Willy N, Smits Arie P T, Feuth Ton B, Braat Didi D M, van Kessel Ad Geurts, Yntema Helger G

Abstract excerpt

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 fragile X premutation carriers could be due to skewed XCI (XCI ratio >80:20). To determine inactivation ratios and activities of the...

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Topics

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Share to Age Factors
Share to Chromosomes, Human, X

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Fragile X Mental Retardation Protein

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Share to Karyotyping

Share to Primary Ovarian Insufficiency

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Source

Identifiers

PMID: 20101683
DOI: 10.1002/ajmg.a.33243

Genes

FMR1

Provenance

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