PMID- 27343326
OWN - NLM
STAT- MEDLINE
DCOM- 20170418
LR  - 20170418
IS  - 1875-6263 (Electronic)
IS  - 1028-4559 (Linking)
VI  - 55
IP  - 3
DP  - 2016 Jun
TI  - Molecular cytogenetic characterization of inv dup del(8p) in a fetus associated 
      with ventriculomegaly, hypoplastic left heart, polyhydramnios and intestinal 
      obstruction.
PG  - 415-8
LID - S1028-4559(16)30055-9 [pii]
LID - 10.1016/j.tjog.2016.05.001 [doi]
AB  - OBJECTIVE: To present molecular cytogenetic characterization of inv dup del(8p) 
      in a fetus with congenital malformations. MATERIALS AND 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. 
      CONCLUSION: 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.
CI  - Copyright (c) 2016. Published by Elsevier B.V.
FAU - Chen, Chih-Ping
AU  - Chen CP
AD  - 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.
FAU - Ko, Tsang-Ming
AU  - Ko TM
AD  - Genephile Bioscience Laboratory, Ko's Obstetrics and Gynecology, Taipei, Taiwan.
FAU - Huang, Wen-Chu
AU  - Huang WC
AD  - Department of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, 
      Taiwan; Department of Medicine, MacKay Medical College, New Taipei City, Taiwan.
FAU - Chern, Schu-Rern
AU  - Chern SR
AD  - Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan.
FAU - Wu, Peih-Shan
AU  - Wu PS
AD  - Gene Biodesign Co. Ltd, Taipei, Taiwan.
FAU - Chen, Yen-Ni
AU  - Chen YN
AD  - Department of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, 
      Taiwan.
FAU - Chen, Shin-Wen
AU  - Chen SW
AD  - Department of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, 
      Taiwan.
FAU - Lee, Chen-Chi
AU  - Lee CC
AD  - Department of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, 
      Taiwan.
FAU - Pan, Chen-Wen
AU  - Pan CW
AD  - Department of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, 
      Taiwan.
FAU - Yang, Chien-Wen
AU  - Yang CW
AD  - Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan.
FAU - Wang, Wayseen
AU  - Wang W
AD  - Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan; 
      Department of Bioengineering, Tatung University, Taipei, Taiwan.
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - China (Republic : 1949- )
TA  - Taiwan J Obstet Gynecol
JT  - Taiwanese journal of obstetrics & gynecology
JID - 101213819
SB  - IM
MH  - Abnormalities, Multiple/diagnostic imaging/*genetics
MH  - *Chromosome Deletion
MH  - *Chromosome Duplication
MH  - *Chromosomes, Human, Pair 8
MH  - Female
MH  - Fetal Blood
MH  - Humans
MH  - Hydrocephalus/diagnostic imaging/genetics
MH  - Hypoplastic Left Heart Syndrome/diagnostic imaging/genetics
MH  - Infant, Newborn
MH  - Intestinal Obstruction/diagnostic imaging/genetics
MH  - Karyotyping
MH  - Polyhydramnios/diagnostic imaging/genetics
MH  - Pregnancy
MH  - Ultrasonography, Prenatal
MH  - Young Adult
OTO - NOTNLM
OT  - aCGH
OT  - chromosome 8p inverted duplication deletion syndrome
OT  - inv dup del(8p)
OT  - prenatal diagnosis
OT  - ultrasound
EDAT- 2016/06/28 06:00
MHDA- 2017/04/19 06:00
CRDT- 2016/06/26 06:00
PHST- 2016/05/03 00:00 [accepted]
PHST- 2016/06/26 06:00 [entrez]
PHST- 2016/06/28 06:00 [pubmed]
PHST- 2017/04/19 06:00 [medline]
AID - S1028-4559(16)30055-9 [pii]
AID - 10.1016/j.tjog.2016.05.001 [doi]
PST - ppublish
SO  - Taiwan J Obstet Gynecol. 2016 Jun;55(3):415-8. doi: 10.1016/j.tjog.2016.05.001.