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

doi:10.1155/2011/370195

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

Istituto "Eugenio Medea" - Associazione La Nostra Famiglia

Research output: Contribution to journal › Article

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	https://doi.org/10.1155/2011/370195
Publication status	Published - 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

Cytogenetics of premature ovarian failure : An investigation on 269 affected women. / Dalpr, Leda; Baronchelli, Simona; Conconi, Donatella; Panzeri, Elena; Bentivegna, Angela; Redaelli, Serena; Lissoni, Sara; Saccheri, Fabiana; Villa, Nicoletta; Crosti, Francesca; Sala, Elena; Martinoli, Emanuela; Volontè, Marinella; Marozzi, Anna; Dalprà, Leda.

In: Journal of Biomedicine and Biotechnology, Vol. 2011, 370195, 2011.

Research output: Contribution to journal › Article

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, vol. 2011, 370195. https://doi.org/10.1155/2011/370195

Dalpr, Leda ; Baronchelli, Simona ; Conconi, Donatella ; Panzeri, Elena ; Bentivegna, Angela ; Redaelli, Serena ; Lissoni, Sara ; Saccheri, Fabiana ; Villa, Nicoletta ; Crosti, Francesca ; Sala, Elena ; Martinoli, Emanuela ; Volontè, Marinella ; Marozzi, Anna ; Dalprà, Leda. / Cytogenetics of premature ovarian failure : An investigation on 269 affected women. In: Journal of Biomedicine and Biotechnology. 2011 ; Vol. 2011.

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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.",

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AU - Dalprà, Leda

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