PMID- 32416896
OWN - NLM
STAT- MEDLINE
DCOM- 20210301
LR  - 20210301
IS  - 1875-6263 (Electronic)
IS  - 1028-4559 (Linking)
VI  - 59
IP  - 3
DP  - 2020 May
TI  - Prenatal diagnosis of mosaicism for double trisomies of trisomy 11 and trisomy 12 
      in a single colony at amniocentesis in a pregnancy with a favorable outcome.
PG  - 443-445
LID - S1028-4559(20)30070-X [pii]
LID - 10.1016/j.tjog.2020.03.020 [doi]
AB  - OBJECTIVE: We present prenatal diagnosis of mosaicism for double trisomies of 
      trisomy 11 and trisomy 12 in a single colony at amniocentesis with a favorable 
      outcome. CASE REPORT: A 23-year-old woman underwent amniocentesis at 24 weeks of 
      gestation because of congenital bowel dilation in the fetus. Amniocentesis 
      revealed a karyotype of 48,XX,+11,+12[1]/46,XX[24]. In 25 colonies of cultured 
      amniocytes, all five cells in one colony had the karyotype of 48,XX,+11,+12, 
      while the rest 24 colonies had the karyotype of 46,XX. The parental karyotypes 
      were normal. Repeat amniocentesis was performed at 26 weeks of gestation. 
      Interphase fluorescence in situ hybridization (FISH), array comparative genomic 
      hybridization (aCGH) and quantitative fluorescent polymerase chain reaction 
      (QF-PCR) were applied on the uncultured amniocytes, and conventional cytogenetic 
      analysis was applied on cultured amniocytes. Interphase FISH analysis showed no 
      trisomy 11 signal and no trisomy 12 signal in 102 uncultured amniocytes. QF-PCR 
      analysis excluded uniparental disomy (UPD) 11 and UPD 12. aCGH analysis showed no 
      genomic imbalance. The cultured amniocytes at repeat amniocentesis had the 
      karyotype of 46,XX in 13/13 colonies. At term, a healthy 3445-g female baby was 
      delivered with no phenotypic abnormality except imperforate anus and a perianal 
      fistula. The cord blood had a karyotype of 46,XX in 40/40 lymphocytes. Postnatal 
      interphase FISH analysis of buccal cells and urinary cells revealed trisomies 11 
      and 12 signals in 11/111 (9.9%) buccal cells compared with 3% in normal control, 
      and in 3/103 (2.9%) urinary cells compared with 0.98% in normal control. 
      CONCLUSION: Mosaicism for double trisomies of trisomy 11 and trisomy 12 in a 
      single colony at amniocentesis without UPD 11 and UPD 12 can be associated with a 
      favorable outcome.
CI  - Copyright (c) 2020. 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 - Wang, Liang-Kai
AU  - Wang LK
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 - Wu, Peih-Shan
AU  - Wu PS
AD  - Gene Biodesign Co. Ltd, Taipei, Taiwan.
FAU - Chen, Shin-Wen
AU  - Chen SW
AD  - Department of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, 
      Taiwan.
FAU - Wu, Fang-Tzu
AU  - Wu FT
AD  - Department of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, 
      Taiwan.
FAU - Chen, Yun-Yi
AU  - Chen YY
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
PL  - China (Republic : 1949- )
TA  - Taiwan J Obstet Gynecol
JT  - Taiwanese journal of obstetrics & gynecology
JID - 101213819
SB  - IM
MH  - Amniocentesis
MH  - Chromosomes, Human, Pair 11/*genetics
MH  - Chromosomes, Human, Pair 12/*genetics
MH  - Comparative Genomic Hybridization
MH  - Cytogenetic Analysis
MH  - Female
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Infant, Newborn
MH  - Karyotype
MH  - Live Birth
MH  - Mosaicism/*embryology
MH  - Pregnancy
MH  - Prenatal Diagnosis/*methods
MH  - Trisomy/*diagnosis/genetics
MH  - Young Adult
OTO - NOTNLM
OT  - Amniocentesis
OT  - Mosaicism
OT  - Single colony
OT  - Trisomy 11
OT  - Trisomy 12
COIS- Declaration of Competing Interest The authors have no conflicts of interest 
      relevant to this article.
EDAT- 2020/05/18 06:00
MHDA- 2021/03/02 06:00
CRDT- 2020/05/18 06:00
PHST- 2020/02/06 00:00 [accepted]
PHST- 2020/05/18 06:00 [entrez]
PHST- 2020/05/18 06:00 [pubmed]
PHST- 2021/03/02 06:00 [medline]
AID - S1028-4559(20)30070-X [pii]
AID - 10.1016/j.tjog.2020.03.020 [doi]
PST - ppublish
SO  - Taiwan J Obstet Gynecol. 2020 May;59(3):443-445. doi: 10.1016/j.tjog.2020.03.020.