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Journal of Biomedicine and Biotechnology
Volume 2011, Article ID 370195, 9 pages
Research Article

Cytogenetics of Premature Ovarian Failure: An Investigation on 269 Affected Women

1Dipartimento di Neuroscienze e Tecnologie Biomediche, Università degli Studi di Milano-Bicocca, Via Cadore 48, 20900 Monza, Italy
2US Genetica Medica, Ospedale San Gerardo, 20900 Monza, Italy
3Dipartimento di Biologia e Genetica per Scienze Mediche, Università degli Studi di Milano, 20133 Milano, Italy

Received 14 September 2010; Revised 11 November 2010; Accepted 14 December 2010

Academic Editor: Ricardo Benavente

Copyright © 2011 Simona Baronchelli et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.


The importance of X chromosome in the aetiology of premature ovarian failure (POF) is well-known but in many cases POF still remains idiopathic. Chromosome aneuploidy increase is a physiological phenomenon related to aging, but the role of low-level sex chromosome mosaicism in ovarian function is still undiscovered. Standard cytogenetic analysis was carried out in a total of 269 patients affected by POF: 27 chromosomal abnormalities were identified, including X chromosome and autosomal structural and numerical abnormalities. In 47 patients with 46,XX karyotype we performed interphase FISH using X alpha-satellite probe in order to identify X chromosome mosaicism rate. Aneuploidy rate in the patient group was significantly higher than the general population group. These findings underline the importance of X chromosome in the aetiology of POF and highlight the potential role of low-level sex chromosome mosaicism in ovarian aging that may lead to a premature onset of menopause.