title: [Conventional and molecular cytogenetic analyses of a derivative X chromosome in amniocentesis].
abstract: OBJECTIVE
  To analyze the aberrant der(X) chromosome using conventional and molecular cytogenetic approaches in a fetus of second trimester and to discuss its clinical effect.
  
  
  METHODS
  Conventional cytogenetic procedures (GTG and CBG banding) were performed on cultured amniotic fluid cells. Three-color fluorescence in situ hybridization (FISH) consisting of X chromosome enumeration probes(CEPX), CEPY and Tel Xp/Yp was further performed to study the aberrant der(X) chromosome.
  
  
  RESULTS
  Der(X) was a rare X/Y translocation. The final karyotypes of the fetus was designated as: 46,X,der(X)t(X;Y)(p22.3;q11.2). ish der(X)t(X;Y)(p22.3;q11.2)(X/Ypter-, DXZ1+, DYZ1+)mat.
  
  
  CONCLUSIONS
  The combination of FISH and conventional cytogenetic techniques is a powerful tool to determine derivative chromosome and to offer an accurate genetic counseling. Identification of Xp; Yq rearrangement can help estimate the risk of fetus abnormalities and give a more precise prognosis.
authors.affiliation: Department of Clinical Laboratory, Women's Hospital, Zhejiang University School of Medicine, Hangzhou, Zhejiang, 310006 P.R. China.
authors.forename: Yu-qin
authors.initials: YQ
authors.lastname: LUO
authors.forename: Yu-li
authors.initials: YL
authors.lastname: QIAN
authors.forename: Yan
authors.initials: Y
authors.lastname: ZHANG
authors.forename: Yu-ning
authors.initials: YN
authors.lastname: ZHU
authors.forename: Chen-ming
authors.initials: CM
authors.lastname: XU
authors.forename: Shi-ming
authors.initials: SM
authors.lastname: LV
mesh_terms: D000328:Adult; D000649:Amniocentesis / Q000379:methods*; D000653:Amniotic Fluid / Q000166:cytology; D002869:Chromosome Aberrations; D002871:Chromosome Banding / Q000379:methods; D041321:Chromosomes, Human, X; D020732:Cytogenetic Analysis / Q000379:methods*; D005260:Female; D005333:Fetus / Q000002:abnormalities; D005817:Genetic Counseling / Q000379:methods; D006801:Humans; D017404:In Situ Hybridization, Fluorescence / Q000379:methods; D011247:Pregnancy; D011262:Pregnancy Trimester, Second