title: Molecular cytogenetic characterization of inv dup del(8p) in a fetus associated with ventriculomegaly, hypoplastic left heart, polyhydramnios and intestinal obstruction.
abstract: OBJECTIVE
  To present molecular cytogenetic characterization of inv dup del(8p) in a fetus with congenital malformations.
  
  
  METHODS
  A 19-year-old, primigravid woman underwent cord blood sampling at 31 weeks of gestation because of prenatal ultrasound findings of polyhydramnios, intestinal obstruction, right ventriculomegaly, and hypoplastic left heart. Preterm precipitous labor and delivery occurred at 32 weeks of gestation. Array comparative genomic hybridization (aCGH), conventional cytogenetic analysis and metaphase fluorescence in situ hybridization (FISH) were applied on cord blood lymphocytes. aCGH was also applied on the umbilical cord. Conventional cytogenetic analysis was applied on parental bloods.
  
  
  RESULTS
  aCGH detected an 11.35 Mb deletion in 8p23.3-p23.1 encompassing SOX7 and GATA4, and a 31.99 Mb duplication in 8p23.1-p11.1 in the fetus. Metaphase FISH confirmed inv dup del(8p). The fetus had a karyotype of 46,XX,der(8)del(8)(p23.1) inv dup(8) (p11.1p23.1). Parental karyotypes were normal. A malformed fetus was delivered with facial dysmorphism.
  
  
  CONCLUSIONS
  Fetuses with inv dup del(8p) may present central nervous system (CNS) abnormality and congenital heart defect on prenatal ultrasound. Prenatal diagnosis of concomitant CNS and cardiac abnormalities should include a differential diagnosis of chromosome 8p inverted duplication deletion syndrome.
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: Genephile Bioscience Laboratory, Ko's Obstetrics and Gynecology, Taipei, Taiwan.
authors.forename: Tsang-Ming
authors.initials: TM
authors.lastname: Ko
authors.affiliation: Department of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, Taiwan; Department of Medicine, MacKay Medical College, New Taipei City, Taiwan.
authors.forename: Wen-Chu
authors.initials: WC
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: 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: Chen-Wen
authors.initials: CW
authors.lastname: Pan
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: D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging / Q000235:genetics*; D002872:Chromosome Deletion; D058674:Chromosome Duplication; D002898:Chromosomes, Human, Pair 8; D005260:Female; D005312:Fetal Blood; D006801:Humans; D006849:Hydrocephalus / Q000000981:diagnostic imaging / Q000235:genetics; D018636:Hypoplastic Left Heart Syndrome / Q000000981:diagnostic imaging / Q000235:genetics; D007231:Infant, Newborn; D007415:Intestinal Obstruction / Q000000981:diagnostic imaging / Q000235:genetics; D007621:Karyotyping; D006831:Polyhydramnios / Q000000981:diagnostic imaging / Q000235:genetics; D011247:Pregnancy; D016216:Ultrasonography, Prenatal; D055815:Young Adult
keywords: aCGH; chromosome 8p inverted duplication deletion syndrome; inv dup del(8p); prenatal diagnosis; ultrasound