title: Molecular cytogenetic characterization of Xp22.32→pter deletion and Xq26.3→qter duplication in a male fetus associated with 46,Y,rec(X)dup(Xq) inv(X)(p22.3q26.3), a hypoplastic left heart, short stature, and maternal X chromosome pericentric inversion.
abstract: OBJECTIVE
  We present molecular cytogenetic characterization of an Xp22.32→pter deletion and an Xq26.3→qter duplication in a male fetus with congenital malformations and maternal X chromosome pericentric inversion.
  
  
  METHODS
  A 22-year-old woman underwent amniocentesis at 17 weeks of gestation because of an abnormal maternal serum screening result. Prenatal ultrasound revealed a hypoplastic left heart and short limbs. Amniocentesis revealed a karyotype of 46,Y,der(X) t(X;?)(p22.31;?). The pregnancy was subsequently terminated, and a malformed fetus was delivered with short stature and facial dysmorphism. Repeat amniocentesis was performed before termination of the pregnancy. Array comparative genomic hybridization was performed on uncultured amniocytes and maternal blood. Conventional cytogenetic analysis was performed on cultured amniocytes, cord blood, and blood from both parents. Fluorescence in situ hybridization was performed on cultured amniocytes.
  
  
  RESULTS
  The maternal karyotype was 46,X,inv(X)(p22.3q26.3). The fetal karyotype was 46,Y, rec(X)dup(Xq)inv(X)(p22.3q26.3) or 46,Y, rec(X)(qter→q26.3::p22.3→qter). Array comparative genomic hybridization on uncultured amniocytes revealed a 4.56-Mb deletion of Xp22.33-p22.32 encompassing SHOX, CSF2RA, and ARSE, and a 19.22-Mb duplication of Xq26.3-q28 encompassing SOX3, FMR1, MECP2, RAB39B, and CLIC2 in the fetus. The mother did not have X chromosome imbalance.
  
  
  CONCLUSIONS
  Detection of X chromosome aberration in a male fetus should give suspicion of a recombinant X chromosome derived from maternal X chromosome pericentric inversion.
authors.affiliation: Department of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, Taiwan; Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan; Department of Biotechnology, Asia University, Taichung, Taiwan; School of Chinese Medicine, College of Chinese Medicine, China Medical University, Taichung, Taiwan; Institute of Clinical and Community Health Nursing, National Yang-Ming University, Taipei, Taiwan; Department of Obstetrics and Gynecology, School of Medicine, National Yang-Ming University, Taipei, Taiwan. Electronic address: cpc_mmh@yahoo.com.
authors.forename: Chih-Ping
authors.initials: CP
authors.lastname: Chen
authors.affiliation: Department of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, Taiwan; Department of Medicine, MacKay Medical College, New Taipei City, Taiwan; MacKay Junior College of Medicine, Nursing and Management, Taipei, Taiwan.
authors.forename: Chen-Yu
authors.initials: CY
authors.lastname: Chen
authors.affiliation: Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan.
authors.forename: Schu-Rern
authors.initials: SR
authors.lastname: Chern
authors.affiliation: Gene Biodesign Co. Ltd, Taipei, Taiwan.
authors.forename: Peih-Shan
authors.initials: PS
authors.lastname: Wu
authors.affiliation: Department of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, Taiwan.
authors.forename: Yen-Ni
authors.initials: YN
authors.lastname: Chen
authors.affiliation: Department of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, Taiwan.
authors.forename: Shin-Wen
authors.initials: SW
authors.lastname: Chen
authors.affiliation: Department of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, Taiwan.
authors.forename: Chen-Chi
authors.initials: CC
authors.lastname: Lee
authors.affiliation: Department of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, Taiwan.
authors.forename: Dai-Dyi
authors.initials: DD
authors.lastname: Town
authors.affiliation: Department of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, Taiwan.
authors.forename: Meng-Shan
authors.initials: MS
authors.lastname: Lee
authors.affiliation: Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan.
authors.forename: Chien-Wen
authors.initials: CW
authors.lastname: Yang
authors.affiliation: Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan; Department of Bioengineering, Tatung University, Taipei, Taiwan.
authors.forename: Wayseen
authors.initials: W
authors.lastname: Wang
mesh_terms: D000328:Adult; D000649:Amniocentesis; D002872:Chromosome Deletion; D007446:Chromosome Inversion; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics; D002899:Chromosomes, Human, Pair 9; D041321:Chromosomes, Human, X / Q000235:genetics*; D020732:Cytogenetic Analysis; D004392:Dwarfism / Q000175:diagnosis / Q000235:genetics*; D005260:Female; D005333:Fetus; D006801:Humans; D018636:Hypoplastic Left Heart Syndrome / Q000235:genetics*; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D008297:Male; D011247:Pregnancy; D014314:Trisomy / Q000175:diagnosis / Q000235:genetics*; D055815:Young Adult
keywords: Xp22.32→pter deletion; Xq26.3→qter duplication; Yp11.31→pter deletion; hypotrophic heart; short stature