Cytogenetics of premature ovarian failure: An investigation on 269 affected women

Leda Dalpr, Simona Baronchelli, Donatella Conconi, Elena Panzeri, Angela Bentivegna, Serena Redaelli, Sara Lissoni, Fabiana Saccheri, Nicoletta Villa, Francesca Crosti, Elena Sala, Emanuela Martinoli, Marinella Volontè, Anna Marozzi, Leda Dalprà

Research output: Contribution to journalArticle

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 languageEnglish
Article number370195
JournalJournal of Biomedicine and Biotechnology
Volume2011
DOIs
Publication statusPublished - 2011

ASJC Scopus subject areas

  • Biotechnology
  • Molecular Medicine
  • Genetics
  • Molecular Biology
  • Health, Toxicology and Mutagenesis
  • Medicine(all)

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    Dalpr, L., Baronchelli, S., Conconi, D., Panzeri, E., Bentivegna, A., Redaelli, S., Lissoni, S., Saccheri, F., Villa, N., Crosti, F., Sala, E., Martinoli, E., Volontè, M., Marozzi, A., & Dalprà, L. (2011). Cytogenetics of premature ovarian failure: An investigation on 269 affected women. Journal of Biomedicine and Biotechnology, 2011, [370195]. https://doi.org/10.1155/2011/370195