Abstract
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.
Original language | English |
---|---|
Article number | 370195 |
Journal | Journal of Biomedicine and Biotechnology |
Volume | 2011 |
DOIs | |
Publication status | Published - 2011 |
ASJC Scopus subject areas
- Biotechnology
- Molecular Medicine
- Genetics
- Molecular Biology
- Health, Toxicology and Mutagenesis
- Medicine(all)