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Article

Short stature and primary ovarian insufficiency possibly due to chromosomal position effect in a balanced X;1 translocation

14 Jul 2015

Abstract excerpt

BACKGROUND: Primary ovarian insufficiency (POI) is defined as a primary ovarian defect characterized by absent menarche (primary amenorrhea), a decrease in the initial primordial follicle number, high follicle-stimulating hormone (FSH) levels and hypoestrogenism. Although the etiology of a majority of POI cases is not yet identified, several data suggest that POI has a strong genetic component. Conventional...

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Share to Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
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PMID: 26175800
DOI: 10.1186/s13039-015-0154-3

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