PMID- 23040926
OWN - NLM
STAT- MEDLINE
DCOM- 20130317
LR  - 20121008
IS  - 1875-6263 (Electronic)
IS  - 1028-4559 (Linking)
VI  - 51
IP  - 3
DP  - 2012 Sep
TI  - Rapid positive confirmation of mosaicism for a small supernumerary marker 
      chromosome as r(8) by interphase fluorescence in situ hybridization, quantitative 
      fluorescent polymerase chain reaction, and array comparative genomic 
      hybridization on uncultured amniocytes in a pregnancy with fetal pyelectasis.
PG  - 405-10
LID - S1028-4559(12)00130-1 [pii]
LID - 10.1016/j.tjog.2012.07.016 [doi]
AB  - OBJECTIVE: This study aimed at presenting prenatal diagnosis and molecular 
      cytogenetic characterization of a small supernumerary marker chromosome (sSMC) 
      derived from chromosome 8 by fluorescence in situ hybridization (FISH), 
      quantitative fluorescent polymerase chain reaction (QF-PCR), and array 
      comparative genomic hybridization (aCGH) on uncultured amniocytes. MATERIALS, 
      METHODS, AND RESULTS: A 32-year-old woman underwent amniocentesis at 19 weeks of 
      gestation because of fetal pyelectasis. Amniocentesis revealed a de novo 
      ring-shaped sSMC in two of 21 colonies of cultured amniocytes. Repeated 
      amniocentesis at 22 weeks of gestation revealed a karyotype of 
      47,XY,+mar[8]/46,XY[32] in cultured amniocytes. Spectral karyotyping and FISH 
      confirmed that the sSMC was derived from chromosome 8. She underwent a third 
      amniocentesis at 26 weeks of gestation. Oligonucleotide-based aCGH analysis on 
      uncultured amniocytes demonstrated a 43 Mb genomic gain in chromosome 8 
      encompassing 8p22-->q12.1. Polymorphic DNA marker analysis of the uncultured 
      amniocytes revealed a maternal origin of the sSMC and excluded uniparental disomy 
      8. Interphase FISH analysis showed three D8Z2 signals in 8/40 (20%) of uncultured 
      amniocytes. The cultured amniocytes had a karyotype of 
      47,XY,+r(8)(p22q12.1)[3]/46,XY[37]. The pregnancy was carried to term, and an 
      apparently normal baby, weighing 3300 g, was delivered with mild hydronephrosis 
      but no other phenotypic abnormalities. The cord blood was found to have a 
      karyotype of 47,XY,+r(8)(p22q12.1)[2]/46,XY[38]. CONCLUSION: Prenatal diagnosis 
      of fetal pyelectasis should alert obstetricians of chromosome aberration. 
      Interphase FISH, QF-PCR, and aCGH analyses on uncultured amniocytes are helpful 
      in rapid positive confirmation of an sSMC detected at amniocentesis.
CI  - Copyright (c) 2012. Published by Elsevier B.V.
FAU - Chen, Chih-Ping
AU  - Chen CP
AD  - Department of Medicine, Mackay Medical College, New Taipei City, Taiwan. 
      cpc_mmh@yahoo.com
FAU - Chang, Shuenn-Dyh
AU  - Chang SD
FAU - Su, Yi-Ning
AU  - Su YN
FAU - Chen, Ming
AU  - Chen M
FAU - Chern, Schu-Rern
AU  - Chern SR
FAU - Su, Jun-Wei
AU  - Su JW
FAU - Chen, Yu-Ting
AU  - Chen YT
FAU - Chen, Wen-Lin
AU  - Chen WL
FAU - Pan, Chen-Wen
AU  - Pan CW
FAU - Lee, Meng-Shan
AU  - Lee MS
FAU - Wang, Wayseen
AU  - Wang W
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - China (Republic : 1949- )
TA  - Taiwan J Obstet Gynecol
JT  - Taiwanese journal of obstetrics & gynecology
JID - 101213819
SB  - IM
MH  - Adult
MH  - Amniocentesis
MH  - *Chromosome Aberrations
MH  - *Chromosomes, Human, Pair 8
MH  - Comparative Genomic Hybridization
MH  - Female
MH  - Humans
MH  - In Situ Hybridization, Fluorescence/methods
MH  - *Mosaicism
MH  - Polymerase Chain Reaction/methods
MH  - Pregnancy
MH  - Pyelectasis/diagnosis/*genetics
EDAT- 2012/10/09 06:00
MHDA- 2013/03/19 06:00
CRDT- 2012/10/09 06:00
PHST- 2012/02/17 00:00 [accepted]
PHST- 2012/10/09 06:00 [entrez]
PHST- 2012/10/09 06:00 [pubmed]
PHST- 2013/03/19 06:00 [medline]
AID - S1028-4559(12)00130-1 [pii]
AID - 10.1016/j.tjog.2012.07.016 [doi]
PST - ppublish
SO  - Taiwan J Obstet Gynecol. 2012 Sep;51(3):405-10. doi: 10.1016/j.tjog.2012.07.016.