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.
Titolo: | Cytogenetics of premature ovarian failure : an investigation on 269 affected women |
Autori: | MAROZZI, ANNA (Penultimo) |
Parole Chiave: | IN-SITU HYBRIDIZATION ; SEX-CHROMOSOME ANEUPLOIDY ; X-CHROMOSOME ; HUMAN-LYMPHOCYTES ; CULTURED LYMPHOCYTES ; AGE ; MICRONUCLEI ; MOSAICISM ; TRANSLOCATIONS ; FIBROBLASTS |
Settore Scientifico Disciplinare: | Settore BIO/13 - Biologia Applicata |
Data di pubblicazione: | 2011 |
Rivista: | |
Tipologia: | Article (author) |
Digital Object Identifier (DOI): | http://dx.doi.org/10.1155/2011/370195 |
Appare nelle tipologie: | 01 - Articolo su periodico |
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