title: Prenatal diagnosis of partial monosomy 5p (5p15.1→pter) and partial trisomy 7p (7p15.2→pter) associated with cystic hygroma, abnormal skull development, and ventriculomegaly.
abstract: OBJECTIVE
  Prenatal diagnosis of concomitant chromosome 5p deletion syndrome and chromosome 7p duplication syndrome in a fetus with abnormal prenatal ultrasound is presented.
  
  
  METHODS
  A 34-year-old woman was referred for amniocentesis at 22 weeks of gestation because of an irregular-shaped skull, bilateral ventriculomegaly, and nuchal cystic hygroma. Amniocentesis revealed a derivative chromosome 5 with a distal 5p deletion and an addendum of an extra unknown chromosomal segment at the breakpoint of 5p. Cytogenetic analysis of parental bloods revealed a karyotype of 46, XX, t(5;7)(p15.1;p15.2) in the mother and a karyotype of 46,XY in the father. The karyotype of the fetus was 46, XX, der(5) t(5;7)(p15.1;p15.2)mat consistent with partial monosomy 5p (5p15.1→pter) and partial trisomy 7p (7p15.2→pter). A malformed fetus was subsequently delivered with an irregular-shaped skull, a large anterior fontanelle, brachycephaly, hypertelorism, a high and prominent forehead, a large nuchal cystic hygroma, large low-set ears, a short and flattened nose, and micrognathia. Array comparative genomic hybridization analysis of the placenta revealed the result of arr 5p15.33p15.1 (22,179-18,133,327)×1.0, 7p22.3p15.2 (54,215-25,551,540)×3.0, indicating an 18.11-Mb deletion of 5p (5p15.33-p15.1) and a 22.5-Mb duplication of 7p (7p22.3-p15.2). Cord blood sampling revealed a karyotype of 46, XX, der(5)t(5;7) (p15.1;p15.2)mat.
  
  
  CONCLUSIONS
  Fetuses with 5p deletion syndrome and 7p duplication syndrome may present ventriculomegaly, abnormal skull development, and cystic hygroma on prenatal ultrasound.
authors: 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: Chih-Ping
authors: CP
authors: Chen
authors: Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan.
authors: Liang-Kai
authors: LK
authors: Wang
authors: Department of Medical Research, Mackay Memorial Hospital, Taipei, Taiwan.
authors: Schu-Rern
authors: SR
authors: Chern
authors: Gene Biodesign Co. Ltd, Taipei, Taiwan.
authors: Peih-Shan
authors: PS
authors: Wu
authors: Department of Medical Research, Mackay Memorial Hospital, Taipei, Taiwan.
authors: Kevin
authors: K
authors: Ko
authors: Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan.
authors: Yen-Ni
authors: YN
authors: Chen
authors: Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan.
authors: Shin-Wen
authors: SW
authors: Chen
authors: Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan.
authors: Meng-Shan
authors: MS
authors: Lee
authors: Department of Medical Research, Mackay Memorial Hospital, Taipei, Taiwan; Department of Bioengineering, Tatung University, Taipei, Taiwan.
authors: Wayseen
authors: W
authors: Wang
mesh_terms: D000328:Adult; D000649:Amniocentesis; D002897:Chromosomes, Human, Pair 7 / Q000235:genetics; D003410:Cri-du-Chat Syndrome / Q000175:diagnosis* / Q000235:genetics; D005260:Female; D047109:Fetal Development / Q000235:genetics; D005315:Fetal Diseases / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D006849:Hydrocephalus / Q000175:diagnosis* / Q000235:genetics; D015160:Hydrops Fetalis / Q000175:diagnosis* / Q000235:genetics; D018191:Lymphangioma, Cystic / Q000175:diagnosis* / Q000235:genetics; D012886:Skull / Q000002:abnormalities / Q000196:embryology / Q000254:growth & development; D014314:Trisomy / Q000175:diagnosis* / Q000235:genetics
keywords: 5p deletion; 7p duplication; cystic hygroma; prenatal diagnosis; ventriculomegaly