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Hum. Reprod. Advance Access published online on June 3, 2006
Human Reproduction, doi:10.1093/humrep/del174
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© The Author 2006. Published by Oxford University Press on behalf of the European Society of Human Reproduction and Embryology. All rights reserved. For Permissions, please email: journals.permissions@oxfordjournals.org
Received January 12, 2006
Revised March 4, 2006
Accepted April 13, 2006

Article

Molecular cytogenetic studies of Xq critical regions in premature ovarian failure patients

M.F. Portnoï 1, A. Aboura 2, G. Tachdjian 2, P. Bouchard 3, D. Dewailly 4, N. Bourcigaux 3, R. Frydman 5, Anne-Céline Reyss 4, Sophie Brisset 2, and S. Christin-Maitre 3 *

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
5 Service de gynécologie-obstétrique, INSERM U782, Hôpital Antoine Béclère, Clamart, France

* To whom correspondence should be addressed.
S. Christin-Maitre, E-mail: sophie.christin-maitre{at}sat.aphp.fr


  Abstract

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.

Keywords: deletion/molecular cytogenetic/premature ovarian failure/translocation/X chromosome.
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