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Unexpected finding of a paternal premutation of the fragile X FMR1 gene in a female fetus of a premutation carrier mother

โœ Scribed by M. Grazia Pomponi; Roberta Pietrobono; Caterina Neri; Pietro Chiurazzi; Giovanni Neri


Publisher
John Wiley and Sons
Year
2010
Tongue
English
Weight
111 KB
Volume
152A
Category
Article
ISSN
1552-4825

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X chromosome inactivation does not defin
โœ Marian A. Spath; Willy N. Nillesen; Arie P.T. Smits; Ton B. Feuth; Didi D.M. Bra ๐Ÿ“‚ Article ๐Ÿ“… 2010 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 159 KB ๐Ÿ‘ 1 views

## 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