PMID- 37188457
OWN - NLM
STAT- MEDLINE
DCOM- 20230517
LR  - 20230517
IS  - 1875-6263 (Electronic)
IS  - 1028-4559 (Linking)
VI  - 62
IP  - 3
DP  - 2023 May
TI  - Low-level mosaic double trisomy involving trisomy 6 and trisomy 20 (48,XY,+6,+20) 
      at amniocentesis without uniparental disomy (UPD) 6 and UPD 20 in a pregnancy 
      associated with a favorable outcome.
PG  - 470-473
LID - S1028-4559(23)00088-8 [pii]
LID - 10.1016/j.tjog.2023.03.011 [doi]
AB  - OBJECTIVE: We present low-level mosaic double trisomy involving trisomy 6 and 
      trisomy 20 (48,XY,+6,+20) at amniocentesis without uniparental disomy (UPD) 6 and 
      UPD 20 in a pregnancy associated with a favorable outcome. CASE REPORT: A 
      38-year-old woman underwent amniocentesis at 17 weeks of gestation because of 
      advanced maternal age. Amniocentesis revealed a karyotype of 
      48,XY,+6,+20[2]/46,XY[15]. Repeat amniocentesis at 20 weeks of gestation revealed 
      a karyotype of 48,XY,+6,+20[6]/46,XY[43], and simultaneous array comparative 
      genomic hybridization (aCGH) analysis on the DNA extracted from uncultured 
      amniocytes revealed the result of arr (X,Y) x 1, (1-22) x 2 with no genomic 
      imbalance. At 22 weeks of gestation, the woman underwent cordocentesis which 
      revealed karyotype of 46,XY (60/60 cells). At 26 weeks of gestation, the woman 
      underwent the third amniocentesis which revealed a karyotype of 
      48,XY,+6,+20[5]/46,XY[30], and simultaneous aCGH analysis on the DNA extracted 
      from uncultured amniocytes revealed the result of arr (1-22) x 2, X x 1, Y x 1 
      without genomic imbalance. The parental karyotypes and prenatal ultrasound were 
      normal. Polymorphic marker analysis using the DNAs extracted from uncultured 
      amniocytes and parental bloods excluded UPD 6 and UPD 20. Interphase fluorescence 
      in situ hybridization (FISH) analysis on 100 uncultured amniocytes detected 
      double trisomy 6 and trisomy 20 in 10 cells, consistent with 10% (10/100 cells) 
      mosaicism for double trisomy 6 and trisomy 20. The woman was encouraged to 
      continue the pregnancy, and a phenotypically normal 3328-g male baby was 
      delivered at 38 weeks of gestation. The cord blood, umbilical cord and the 
      placenta had a karyotype of 46,XY (40/40 cells). CONCLUSION: Low-level mosaic 
      double trisomy involving trisomy 6 and trisomy 20 at amniocentesis without UPD 6 
      and UPD 20 can be associated with a favorable fetal outcome.
CI  - Copyright (c) 2023. 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; 
      School of Chinese Medicine, College of Chinese Medicine, China Medical 
      University, Taichung, Taiwan; Institute of Clinical and Community Health Nursing, 
      National Yang Ming Chiao Tung University, Taipei, Taiwan; Department of 
      Obstetrics and Gynecology, School of Medicine, National Yang Ming Chiao Tung 
      University, Taipei, Taiwan; Department of Medical Laboratory Science and 
      Biotechnology, College of Medical and Health Science, Asia University, Taichung, 
      Taiwan. Electronic address: cpc_mmh@yahoo.com.
FAU - Wu, Fang-Tzu
AU  - Wu FT
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 - Pan, Yen-Ting
AU  - Pan YT
AD  - Department of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, 
      Taiwan.
FAU - Lee, Meng-Shan
AU  - Lee MS
AD  - Department of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, 
      Taiwan.
FAU - Wang, Wayseen
AU  - Wang W
AD  - Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan.
LA  - eng
PT  - Case Reports
PL  - China (Republic : 1949- )
TA  - Taiwan J Obstet Gynecol
JT  - Taiwanese journal of obstetrics & gynecology
JID - 101213819
RN  - Chromosome 20, trisomy
SB  - IM
MH  - Pregnancy
MH  - Female
MH  - Male
MH  - Humans
MH  - *Amniocentesis
MH  - *Trisomy/diagnosis/genetics
MH  - Mosaicism
MH  - In Situ Hybridization, Fluorescence
MH  - Comparative Genomic Hybridization
MH  - Uniparental Disomy/diagnosis/genetics
MH  - Karyotype
OTO - NOTNLM
OT  - Mosaicism
OT  - Trisomy 20
OT  - Trisomy 6
OT  - UPD 20
OT  - UPD 6
COIS- Declaration of competing interest The authors have no conflicts of interest 
      relevant to this article.
EDAT- 2023/05/16 01:09
MHDA- 2023/05/17 06:42
CRDT- 2023/05/15 20:58
PHST- 2023/03/09 00:00 [accepted]
PHST- 2023/05/17 06:42 [medline]
PHST- 2023/05/16 01:09 [pubmed]
PHST- 2023/05/15 20:58 [entrez]
AID - S1028-4559(23)00088-8 [pii]
AID - 10.1016/j.tjog.2023.03.011 [doi]
PST - ppublish
SO  - Taiwan J Obstet Gynecol. 2023 May;62(3):470-473. doi: 10.1016/j.tjog.2023.03.011.