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Journal of Assisted Reproduction and Genetics

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01-01-2012 | Genetics

Xq;autosome translocation in POF: Xq27.2 deletion resulting in haploinsufficiency for SPANX

Authors: Wendy S. Vitek, Kelly Pagidas, Guangyu Gu, John R. Pepperell, Joe Leigh Simpson, Umadevi Tantravahi, Beth J. Plante

Published in: Journal of Assisted Reproduction and Genetics | Issue 1/2012

Excerpt

Premature ovarian failure (POF), also called primary ovarian insufficiency (POI), is defined as irregular menses in women younger than 40 years with menopausal-level serum gonadotropins [1]. Spontaneous onset POF may result from numeric and structural chromosomal abnormalities, fragile X premutations, autoimmune disorders and rare syndromes, though in most cases the etiology remains unknown [2]. …

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Title: Xq;autosome translocation in POF: Xq27.2 deletion resulting in haploinsufficiency for SPANX
Authors: Wendy S. Vitek
Kelly Pagidas
Guangyu Gu
John R. Pepperell
Joe Leigh Simpson
Umadevi Tantravahi
Beth J. Plante
Publication date: 01-01-2012
Publisher: Springer US
Published in: Journal of Assisted Reproduction and Genetics / Issue 1/2012
Print ISSN: 1058-0468
Electronic ISSN: 1573-7330
DOI: https://doi.org/10.1007/s10815-011-9653-2

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Xq;autosome translocation in POF: Xq27.2 deletion resulting in haploinsufficiency for SPANX

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