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.
|Titolo:||Cytogenetics of premature ovarian failure : an investigation on 269 affected women|
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|
|Digital Object Identifier (DOI):||http://dx.doi.org/10.1155/2011/370195|
|Appare nelle tipologie:||01 - Articolo su periodico|