title: Cytogenetics of premature ovarian failure: an investigation on 269 affected women.
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.
authors.affiliation: Dipartimento di Neuroscienze e Tecnologie Biomediche, Università degli Studi di Milano-Bicocca, Via Cadore 48, 20900 Monza, Italy.
authors.forename: Simona
authors.initials: S
authors.lastname: Baronchelli
authors.forename: Donatella
authors.initials: D
authors.lastname: Conconi
authors.forename: Elena
authors.initials: E
authors.lastname: Panzeri
authors.forename: Angela
authors.initials: A
authors.lastname: Bentivegna
authors.forename: Serena
authors.initials: S
authors.lastname: Redaelli
authors.forename: Sara
authors.initials: S
authors.lastname: Lissoni
authors.forename: Fabiana
authors.initials: F
authors.lastname: Saccheri
authors.forename: Nicoletta
authors.initials: N
authors.lastname: Villa
authors.forename: Francesca
authors.initials: F
authors.lastname: Crosti
authors.forename: Elena
authors.initials: E
authors.lastname: Sala
authors.forename: Emanuela
authors.initials: E
authors.lastname: Martinoli
authors.forename: Marinella
authors.initials: M
authors.lastname: Volontè
authors.forename: Anna
authors.initials: A
authors.lastname: Marozzi
authors.forename: Leda
authors.initials: L
authors.lastname: Dalprà
mesh_terms: D000328:Adult; D000375:Aging / Q000235:genetics; D002467:Cell Nucleus / Q000235:genetics; D002869:Chromosome Aberrations; D002887:Chromosomes, Human, Pair 18 / Q000235:genetics; D041321:Chromosomes, Human, X / Q000235:genetics; D020732:Cytogenetic Analysis / Q000379:methods*; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007399:Interphase; D008875:Middle Aged; D009006:Monosomy / Q000235:genetics; D016649:Primary Ovarian Insufficiency / Q000235:genetics* / Q000473:pathology