title: Distal 3p duplication and terminal 7q deletion associated with nuchal edema and cyclopia in a fetus and a review of the literature.
abstract: OBJECTIVE
  To present perinatal detection of distal 3p duplication and terminal 7q deletion associated with nuchal edema and cyclopia in a fetus, and to review the literature.
  
  
  METHODS
  A 32-year-old, G9P0, woman who had experienced eight spontaneous abortions was found to have fetal nuchal edema, alobar holoprosencephaly, and cyclopia by prenatal ultrasound at 15 weeks of gestation. The pregnancy was subsequently terminated, and a malformed fetus was delivered with cyclopia. Molecular and conventional cytogenetic analyses were made to determine the genetic pathogenesis of fetal abnormalities.
  
  
  RESULTS
  The father had a karyotype of 46,XY,t(3;7)(p22.1;q36.1). The mother had a karyotype of 46,XX. The fetus had a karyotype of 46,XY,der(7)t(3;7)(p22.1;q36.1)pat. The analysis of array comparative genomic hybridization analysis revealed a 43.68-Mb duplication of 3p26.3-3p22.1 encompassing CHL1 and CNTN4, and an 8.66-Mb deletion of 7q36.1-7q36.3 encompassing SHH in the fetus.
  
  
  CONCLUSIONS
  Simultaneous occurrence of 7q deletion and 3p duplication can be associated with alobar holoprosencephaly. For the couple with a parental translocation involving 7q and 3p, prenatal ultrasound should include a detailed investigation of central nervous system anomalies.
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.
authors.forename: Ming-Chao
authors.initials: MC
authors.lastname: Huang
authors.affiliation: Department of Medical Research, Mackay Memorial Hospital, Taipei, Taiwan.
authors.forename: Schu-Rern
authors.initials: SR
authors.lastname: Chern
authors.affiliation: Department of Obstetrics and Gynecology, Kaohsiung Medical University Hospital, Kaohsiung Medical University, Kaohsiung, Taiwan.
authors.forename: Yu-Ling
authors.initials: YL
authors.lastname: Kuo
authors.affiliation: Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan.
authors.forename: Yen-Ni
authors.initials: YN
authors.lastname: Chen
authors.affiliation: Gene Biodesign Co. Ltd, Taipei, Taiwan.
authors.forename: Peih-Shan
authors.initials: PS
authors.lastname: Wu
authors.affiliation: Department of Medical Research, Mackay Memorial Hospital, Taipei, Taiwan.
authors.forename: Li-Feng
authors.initials: LF
authors.lastname: Chen
authors.affiliation: Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan.
authors.forename: Chen-Wen
authors.initials: CW
authors.lastname: Pan
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; D002872:Chromosome Deletion; D058674:Chromosome Duplication; D002893:Chromosomes, Human, Pair 3; D002897:Chromosomes, Human, Pair 7; D004487:Edema / Q000000981:diagnostic imaging / Q000235:genetics*; D005260:Female; D016142:Holoprosencephaly / Q000000981:diagnostic imaging / Q000235:genetics*; D006801:Humans; D059785:Karyotype; D048208:Nuchal Translucency Measurement; D011247:Pregnancy
keywords: 3p duplication; 7q deletion; cyclopia; holoprosencephaly; nuchal edema