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.
Cytogenetics of premature ovarian failure : an investigation on 269 affected women / S. Baronchelli, D. Conconi, E. Panzeri, A. Bentivegna, S. Redaelli, S. Lissoni, F. Saccheri, N. Villa, F. Crosti, E. Sala, E. Martinoli, M. Volontè, A. Marozzi, L. Dalprà. - In: JOURNAL OF BIOMEDICINE AND BIOTECHNOLOGY. - ISSN 1110-7243. - 2011:(2011), pp. 370195.370195.1-370195.370195.9. [10.1155/2011/370195]
Cytogenetics of premature ovarian failure : an investigation on 269 affected women
E. Martinoli;M. Volontè;A. MarozziPenultimo
;
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.File | Dimensione | Formato | |
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