Hum. Reprod. Advance Access originally published online on June 3, 2006
Human Reproduction 2006 21(9):2329-2334; doi:10.1093/humrep/del174
| ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Molecular cytogenetic studies of Xq critical regions in premature ovarian failure patients
1 Laboratoire de cytogénétique, Hôpital Saint-Antoine, Paris 2 Service de biologie et génétique de la reproduction, INSERM U782, Hôpital Antoine Béclère, Clamart 3 UPRES 1533, Université Pierre et Marie Curie, Service d’Endocrinologie de la Reproduction, Assistance-Publique Hôpitaux de Paris, Hôpital Saint-Antoine, Paris 4 Service d’Endocrinologie de la reproduction Hôpital Jeanne de Flandres, Lille and 5 Service de gynécologie-obstétrique, INSERM U782, Hôpital Antoine Béclère, Clamart, France
6 To whom correspondence should be addressed at: UPRES 1533, Université Pierre et Marie Curie, Service d’Endocrinologie de la Reproduction, Assistance-Publique Hôpitaux de Paris, Hôpital Saint-Antoine, 75012 Paris, France. E-mail: sophie.christin-maitre{at}sat.aphp.fr
BACKGROUND: Premature ovarian failure (POF) is defined as amenorrhoea for more than 6 months, occurring before the age of 40, with an FSH serum level higher than 40 mIU/ml. Cytogenetically visible rearrangements of the X chromosome are associated with POF. Our hypothesis was that cryptic Xq chromosomal rearrangements could be an important etiological contributor of POF. METHODS: Ninety POF women were recruited and compared to 20 control women. Peripheral blood samples were collected and metaphase chromosomes were prepared using standard cytogenetic methods. To detect Xq chromosomal micro-rearrangements, fluorescence in situ hybridization (FISH) analysis was performed using a selection of 30 bacterial artificial chromosome (BAC) and P1 artificial chromosome clones, spanning Xq13–q27. We further localized the translocation breakpoints by FISH with additional BAC clones. RESULTS: Chromosomal abnormalities were identified in 8.8% of our 90 patients [one triple X, three large Xq deletions 46,X,del(X)(q22.3), 46,X,del(X)(q21.2) and 46,X,del(X)(q21.32), two balanced X;autosome translocations 46,X,t(X;1) (q21.1;q32) and 46,X,t(X;9)(q21.31;q21.2) and two Robertsonian translocations 45,XX,der(15;22)(q10;q10) and 45,XX,der(14;21)(q10;q10)]. The two Xq translocation breakpoints were among a cluster of repetitive elements without any known genes. FISH analysis did not reveal any Xq chromosomal micro-rearrangement. CONCLUSIONS: Karyotyping is definitely helpful in the evaluation of POF patients. No submicroscopic chromosomal rearrangements affecting Xq region were identified. Further analysis using DNA microarrays should help delineate Xq regions involved in POF.
Key words: deletion/molecular cytogenetic/premature ovarian failure/translocation/X chromosome
CiteULike 
Connotea 
Del.icio.us What's this?
This article has been cited by other articles:
|
|
 |
|
  S. H. Yoon, Y. M. Choi, M. A. Hong, B. M. Kang, J. J. Kim, E. G. Min, J. G. Kim, and S. Y. Moon X chromosome inactivation patterns in patients with idiopathic premature ovarian failure Hum. Reprod., March 1, 2008; 23(3): 688 - 692. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 B. Mandon-Pepin, P. Touraine, F. Kuttenn, C. Derbois, A. Rouxel, F. Matsuda, A. Nicolas, C. Cotinot, and M. Fellous Genetic investigation of four meiotic genes in women with premature ovarian failure Eur. J. Endocrinol., January 1, 2008; 158(1): 107 - 115. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
G. Tachdjian, A. Aboura, M.-F. Portnoi, M. Pasquier, N. Bourcigaux, T. Simon, G. Rousseau, L. Finkel, M. Benkhalifa, and S. Christin-Maitre Cryptic Xp duplication including the SHOX gene in a woman with 46,X, del(X)(q21.31) and premature ovarian failure Hum. Reprod., January 1, 2008; 23(1): 222 - 226. [Abstract] [Full Text] [PDF]
|
|