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.

Baronchelli, S., Conconi, D., Panzeri, E., Bentivegna, A., Redaelli, S., Lissoni, S., et al. (2011). Cytogenetics of Premature Ovarian Failure: An Investigation on 269 Affected Women. JOURNAL OF BIOMEDICINE AND BIOTECHNOLOGY, 2011 [10.1155/2011/370195].

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

BARONCHELLI, SIMONA;CONCONI, DONATELLA;PANZERI, ELENA;BENTIVEGNA, ANGELA;REDAELLI, SERENA;LISSONI, SARA;DALPRA', LEDA
2011

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.
Articolo in rivista - Articolo scientifico
Premature ovarian failure; X chromosome loss, FISH
English
Gold Open Access• Green Open Access
Baronchelli, S., Conconi, D., Panzeri, E., Bentivegna, A., Redaelli, S., Lissoni, S., et al. (2011). Cytogenetics of Premature Ovarian Failure: An Investigation on 269 Affected Women. JOURNAL OF BIOMEDICINE AND BIOTECHNOLOGY, 2011 [10.1155/2011/370195].
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/10281/21864
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