scholarly journals Low-level X chromosome mosaicism in women with sporadic premature ovarian failure

2011 ◽  
Vol 22 (4) ◽  
pp. 399-403 ◽  
Author(s):  
K. Gersak ◽  
A. Veble
Keyword(s):  
X Chromosome ◽  
Premature Ovarian Failure ◽  
Ovarian Failure ◽  
Chromosome Mosaicism ◽  
Low Level

scholarly journals Cytogenetics of Premature Ovarian Failure: An Investigation on 269 Affected Women

2011 ◽  
Vol 2011 ◽  
pp. 1-9 ◽  
Author(s):  
Simona Baronchelli ◽  
Donatella Conconi ◽  
Elena Panzeri ◽  
Angela Bentivegna ◽  
Serena Redaelli ◽  
...  
Keyword(s):  
X Chromosome ◽  
Premature Ovarian Failure ◽  
Ovarian Function ◽  
Sex Chromosome ◽  
Chromosomal Abnormalities ◽  
Population Group ◽  
Ovarian Failure ◽  
Chromosome Mosaicism ◽  
Low Level

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.

Premature ovarian failure with FMR1 premutation, X chromosome mosaicism and blood lymphocyte microchimerism

Climacteric ◽  
2010 ◽  
Vol 14 (2) ◽  
pp. 289-293 ◽  
Author(s):  
K. Gersak ◽  
D. Franic ◽  
A. Veble ◽  
I. Zupanic Pajnic ◽  
N. Teran ◽  
...  
Keyword(s):  
X Chromosome ◽  
Premature Ovarian Failure ◽  
Blood Lymphocyte ◽  
Ovarian Failure ◽  
Fmr1 Premutation ◽  
Chromosome Mosaicism

scholarly journals Analysis of X chromosome genomic DNA sequence copy number variation associated with premature ovarian failure (POF)

2010 ◽  
Vol 25 (8) ◽  
pp. 2139-2150 ◽  
Author(s):  
C. R. Quilter ◽  
A. C. Karcanias ◽  
M. R. Bagga ◽  
S. Duncan ◽  
A. Murray ◽  
...  
Keyword(s):  
Copy Number Variation ◽  
Dna Sequence ◽  
X Chromosome ◽  
Premature Ovarian Failure ◽  
Copy Number ◽  
Genomic Dna ◽  
Ovarian Failure ◽  
Number Variation ◽  
Genomic Dna Sequence

Analysis of FMR1 gene premutation and X chromosome cytogenetic abnormalities in 100 Tunisian patients presenting premature ovarian failure

2015 ◽  
Vol 76 (6) ◽  
pp. 671-678 ◽  
Author(s):  
Nouha Bouali ◽  
Dorra Hmida ◽  
Soumaya Mougou ◽  
Jérôme Bouligand ◽  
Besma Lakhal ◽  
...  
Keyword(s):  
X Chromosome ◽  
Premature Ovarian Failure ◽  
Ovarian Failure ◽  
Fmr1 Gene ◽  
Cytogenetic Abnormalities ◽  
Tunisian Patients

Eleven X Chromosome Breakpoints Associated with Premature Ovarian Failure (POF) Map to a 15-Mb YAC Contig Spanning Xq21

Genomics ◽  
1997 ◽  
Vol 40 (1) ◽  
pp. 123-131 ◽  
Author(s):  
Cinzia Sala ◽  
Giulia Arrigo ◽  
Giovanna Torri ◽  
Francesco Martinazzi ◽  
Paola Riva ◽  
...  
Keyword(s):  
X Chromosome ◽  
Premature Ovarian Failure ◽  
Ovarian Failure ◽  
Yac Contig

Genetic significance of skewed X-chromosome inactivation in premature ovarian failure

2004 ◽  
Vol 130A (3) ◽  
pp. 240-244 ◽  
Author(s):  
Kazuyo Sato ◽  
Shigeki Uehara ◽  
Masaki Hashiyada ◽  
Hiroshi Nabeshima ◽  
Jun-ichi Sugawara ◽  
...  
Keyword(s):  
X Chromosome ◽  
Premature Ovarian Failure ◽  
X Chromosome Inactivation ◽  
Ovarian Failure ◽  
Chromosome Inactivation ◽  
Genetic Significance ◽  
Skewed X Chromosome Inactivation
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