title: A family with Xq22.3q25 interstitial deletion and normal ovarian function.
abstract: OBJECTIVE
  To investigate genomic changes in a family with deletion of X chromosome q22.3-q25 associated with normal constitutional and reproductive phenotypes.
  
  
  METHODS
  Case report.
  
  
  METHODS
  Academic district hospital genetic laboratory.
  
  
  METHODS
  A family incidentally found to have deletion of X chromosome q22.3-q25.
  
  
  METHODS
  Cytogenetic analysis and array-based comparative genomic hybridization for amniotic fluid and peripheral blood lymphocyte of family members.
  
  
  METHODS
  Ovarian function and menstrual cycles.
  
  
  RESULTS
  The proband and two daughters showed deletion of Xq22.3q25. This region spans 17.4 Mb and contains 121 genes.
  
  
  CONCLUSIONS
  Female subjects with deletion of Xq22.3q25 may present with normal constitutional and reproductive phenotypes.
authors.affiliation: Department of Obstetrics and Gynecology, Kuo General Hospital, Tainan, Taiwan.
authors.forename: Long-Ching
authors.initials: LC
authors.lastname: Kuan
authors.forename: Mei-Tsz
authors.initials: MT
authors.lastname: Su
authors.forename: Chin-Ming
authors.initials: CM
authors.lastname: Wu
authors.forename: Ming
authors.initials: M
authors.lastname: Chen
authors.forename: Pao-Lin
authors.initials: PL
authors.lastname: Kuo
authors.forename: Tsung-Cheng
authors.initials: TC
authors.lastname: Kuo
mesh_terms: D000328:Adult; D002648:Child; D002675:Child, Preschool; D002872:Chromosome Deletion; D041321:Chromosomes, Human, X / Q000235:genetics*; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D010053:Ovary / Q000502:physiology*; D010375:Pedigree; D016649:Primary Ovarian Insufficiency / Q000175:diagnosis / Q000235:genetics