title: Molecular cytogenetic studies of Xq critical regions in premature ovarian failure patients.
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.
authors.affiliation: Laboratoire de cytogénétique, Hôpital Saint-Antoine, Paris, France.
authors.forename: M F
authors.initials: MF
authors.lastname: Portnoï
authors.forename: A
authors.initials: A
authors.lastname: Aboura
authors.forename: G
authors.initials: G
authors.lastname: Tachdjian
authors.forename: P
authors.initials: P
authors.lastname: Bouchard
authors.forename: D
authors.initials: D
authors.lastname: Dewailly
authors.forename: N
authors.initials: N
authors.lastname: Bourcigaux
authors.forename: R
authors.initials: R
authors.lastname: Frydman
authors.forename: Anne-Céline
authors.initials: AC
authors.lastname: Reyss
authors.forename: Sophie
authors.initials: S
authors.lastname: Brisset
authors.forename: S
authors.initials: S
authors.lastname: Christin-Maitre
mesh_terms: D000328:Adult; D016022:Case-Control Studies; D002869:Chromosome Aberrations; D022202:Chromosomes, Artificial, Bacterial / Q000378:metabolism; D041321:Chromosomes, Human, X / Q000648:ultrastructure*; D003582:Cytogenetics; D005260:Female; D005640:Follicle Stimulating Hormone / Q000096:biosynthesis; D015321:Gene Rearrangement; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008875:Middle Aged; D008957:Models, Genetic; D016649:Primary Ovarian Insufficiency / Q000235:genetics*; D014178:Translocation, Genetic
chemical_list: D005640:Follicle Stimulating Hormone