title: Complex X chromosome rearrangement delineated by array comparative genome hybridization in a woman with premature ovarian insufficiency.
abstract: OBJECTIVE
  To investigate candidate genes affected by a complex X chromosome rearrangement that may play a role in the diagnosis of spontaneous premature ovarian insufficiency (POI).
  
  
  METHODS
  Prospective cytogenetic analysis, fluorescence in situ hybridization (FISH) analysis and oligonucleotide array comparative genome hybridization (CGH).
  
  
  METHODS
  University medical center.
  
  
  METHODS
  A 36-year-old woman with POI found to have a highly rearrangement X chromosome.
  
  
  METHODS
  FISH analysis and oligonucleotide array CGH.
  
  
  METHODS
  Oligonucleotide microarray analysis to detect duplicated, deleted, or translocated regions of the X chromosome.
  
  
  RESULTS
  Complex rearrangement of the X chromosome involving ≥12 breakpoints resulting in two deletions, four duplications, and several intrachromosomal translocations. At least 13 genes with possible relevance to POI may be affected by the rearrangement.
  
  
  CONCLUSIONS
  Array CGH can reveal candidate genes that may have essential roles in fertility and POI.
authors.affiliation: Department of Obstetrics, Gynecology, and Reproductive Sciences, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania 15213, USA.
authors.forename: Melanie E
authors.initials: ME
authors.lastname: Ochalski
authors.forename: Natalie
authors.initials: N
authors.lastname: Engle
authors.forename: Anthony
authors.initials: A
authors.lastname: Wakim
authors.forename: Britt J
authors.initials: BJ
authors.lastname: Ravnan
authors.forename: Lori
authors.initials: L
authors.lastname: Hoffner
authors.forename: Aleksandar
authors.initials: A
authors.lastname: Rajkovic
authors.forename: Urvashi
authors.initials: U
authors.lastname: Surti
mesh_terms: D000328:Adult; D056905:Chromosome Breakpoints; D002872:Chromosome Deletion; D058674:Chromosome Duplication; D041321:Chromosomes, Human, X; D055028:Comparative Genomic Hybridization; D005260:Female; D005298:Fertility / Q000235:genetics*; D015321:Gene Rearrangement; D020022:Genetic Predisposition to Disease; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D020411:Oligonucleotide Array Sequence Analysis; D010060:Ovulation / Q000235:genetics*; D010641:Phenotype; D016649:Primary Ovarian Insufficiency / Q000235:genetics* / Q000503:physiopathology; D014178:Translocation, Genetic