PMID- 25510702
OWN - NLM
STAT- MEDLINE
DCOM- 20150825
LR  - 20141216
IS  - 1875-6263 (Electronic)
IS  - 1028-4559 (Linking)
VI  - 53
IP  - 4
DP  - 2014 Dec
TI  - Interphase fluorescence in situ hybridization characterization of mosaicism using 
      uncultured amniocytes and cultured stimulated cord blood lymphocytes in 
      prenatally detected Pallister-Killian syndrome.
PG  - 566-71
LID - S1028-4559(14)00190-9 [pii]
LID - 10.1016/j.tjog.2014.09.004 [doi]
AB  - OBJECTIVE: This study aims to present molecular cytogenetic characterization of 
      Pallister-Killian syndrome (PKS). MATERIALS AND METHODS: A 37-year-old woman 
      underwent amniocentesis at 18 weeks of gestation. Amniocentesis revealed a 
      karyotype of 47,XY,+i(12)(p10)[6]/48,XY,+i(12)(p10)x2[1]/46,XY[6]. Repeated 
      amniocentesis was performed at 20 weeks of gestation. Array comparative genomic 
      hybridization (aCGH) was performed using uncultured amniocytes, cord blood, and 
      skin. Quantitative fluorescent polymerase chain reaction (QF-PCR) was performed 
      using uncultured amniocytes and parental bloods. Interphase fluorescence in situ 
      hybridization (FISH) analysis was performed using uncultured amniocytes and 
      cultured stimulated cord blood lymphocytes. Conventional cytogenetic analysis was 
      performed using cultured cells from amniotic fluid, skin, placenta, umbilical 
      cord, and cord blood. RESULTS: Repeated amniocentesis revealed a mosaic tetrasomy 
      12p level of 25% (10/40), cultured cord blood lymphocytes had no mosaicism, 
      cultured skin fibroblasts had a mosaic tetrasomy 12p level of 52.5% (21/40), 
      umbilical cord fibroblasts had a mosaic tetrasomy 12p level of 72.5% (29/40), and 
      the placental cells had a mosaic tetrasomy 12p level of 2.5% (1/40) on 
      conventional cytogenetics. An aCGH analysis revealed that the increases in gene 
      dosage in 12p for uncultured amniocytes, skin, and cord blood were the log2 
      ratios of 0.9, 0.7, and 0.7, respectively. Interphase FISH on uncultured 
      amniocytes revealed a mosaic level of 73.1% (49/67) (tetrasomy 12p: 33; hexasomy 
      12p: 16). Interphase FISH analysis of stimulated cultured cord blood lymphocytes 
      revealed a mosaic level of 58.3% (60/103) (tetrasomy 12p: 51; hexasomy 12p: 9). 
      CONCLUSION: In the diagnosis of PKS by conventional culture cytogenetics, cord 
      blood samplings and placental samplings are prone to a negative result when 
      compared with amniocentesis. Whenever cord blood sampling is applied for prenatal 
      diagnosis of PKS, aCGH on uncultured cord blood or interphase FISH on cultured 
      cord blood can be used for the diagnosis, in addition to conventional 
      cytogenetics.
CI  - Copyright (c) 2014. 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 - Peng, Cheng-Ran
AU  - Peng CR
AD  - Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, 
      Taiwan.
FAU - Chern, Schu-Rern
AU  - Chern SR
AD  - Department of Medical Research, Mackay Memorial Hospital, Taipei, Taiwan.
FAU - Kuo, Yu-Ling
AU  - Kuo YL
AD  - Department of Obstetrics and Gynecology, Kaohsiung Medical University Hospital, 
      Kaohsiung Medical University, Kaohsiung, Taiwan.
FAU - Wu, Peih-Shan
AU  - Wu PS
AD  - Gene Biodesign Co. Ltd, Taipei, Taiwan.
FAU - Town, Dai-Dyi
AU  - Town DD
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
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
RN  - Pallister Killian syndrome
SB  - IM
MH  - Adult
MH  - *Amniocentesis
MH  - Amnion/*cytology
MH  - Cells, Cultured
MH  - Chromosome Disorders/blood/*diagnosis/genetics
MH  - Chromosomes, Human, Pair 12/genetics
MH  - Comparative Genomic Hybridization
MH  - Female
MH  - *Fetal Blood
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Lymphocyte Activation
MH  - *Lymphocytes
MH  - *Mosaicism
MH  - Pregnancy
OTO - NOTNLM
OT  - Pallister-Killian syndrome
OT  - blood lymphocyte
OT  - interphase FISH
OT  - mosaic tetrasomy 12p
OT  - prenatal diagnosis
EDAT- 2014/12/17 06:00
MHDA- 2015/08/26 06:00
CRDT- 2014/12/17 06:00
PHST- 2014/10/01 00:00 [accepted]
PHST- 2014/12/17 06:00 [entrez]
PHST- 2014/12/17 06:00 [pubmed]
PHST- 2015/08/26 06:00 [medline]
AID - S1028-4559(14)00190-9 [pii]
AID - 10.1016/j.tjog.2014.09.004 [doi]
PST - ppublish
SO  - Taiwan J Obstet Gynecol. 2014 Dec;53(4):566-71. doi: 10.1016/j.tjog.2014.09.004.