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.
| Original language | English |
|---|---|
| Article number | 370195 |
| Journal | Journal of Biomedicine and Biotechnology |
| Volume | 2011 |
| DOIs | |
| Publication status | Published - 2011 |
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ASJC Scopus subject areas
- Biotechnology
- Molecular Medicine
- Genetics
- Molecular Biology
- Health, Toxicology and Mutagenesis
- Medicine(all)
Cite this
Cytogenetics of premature ovarian failure : An investigation on 269 affected women. / Dalpr, Leda; Baronchelli, Simona; Conconi, Donatella; Panzeri, Elena; Bentivegna, Angela; Redaelli, Serena; Lissoni, Sara; Saccheri, Fabiana; Villa, Nicoletta; Crosti, Francesca; Sala, Elena; Martinoli, Emanuela; Volontè, Marinella; Marozzi, Anna; Dalprà, Leda.
In: Journal of Biomedicine and Biotechnology, Vol. 2011, 370195, 2011.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Cytogenetics of premature ovarian failure
T2 - An investigation on 269 affected women
AU - Dalpr, Leda
AU - Baronchelli, Simona
AU - Conconi, Donatella
AU - Panzeri, Elena
AU - Bentivegna, Angela
AU - Redaelli, Serena
AU - Lissoni, Sara
AU - Saccheri, Fabiana
AU - Villa, Nicoletta
AU - Crosti, Francesca
AU - Sala, Elena
AU - Martinoli, Emanuela
AU - Volontè, Marinella
AU - Marozzi, Anna
AU - Dalprà, Leda
PY - 2011
Y1 - 2011
N2 - 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.
AB - 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.
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UR - http://www.scopus.com/inward/citedby.url?scp=79952235003&partnerID=8YFLogxK
U2 - 10.1155/2011/370195
DO - 10.1155/2011/370195
M3 - Article
C2 - 21318170
AN - SCOPUS:79952235003
VL - 2011
JO - Journal of Biomedicine and Biotechnology
JF - Journal of Biomedicine and Biotechnology
SN - 1110-7243
M1 - 370195
ER -