PMID- 32653138
OWN - NLM
STAT- MEDLINE
DCOM- 20210420
LR  - 20210420
IS  - 1875-6263 (Electronic)
IS  - 1028-4559 (Linking)
VI  - 59
IP  - 4
DP  - 2020 Jul
TI  - Prenatal diagnosis of mosaicism for trisomy 12 in a single colony at 
      amniocentesis in a pregnancy with a favorable outcome.
PG  - 604-606
LID - S1028-4559(20)30122-4 [pii]
LID - 10.1016/j.tjog.2020.05.023 [doi]
AB  - OBJECTIVE: We present prenatal diagnosis of mosaicism for trisomy 12 in a single 
      colony at amniocentesis with a favorable outcome. CASE REPORT: A 36-year-old 
      woman underwent amniocentesis at 18 weeks of gestation because of advanced 
      maternal age. Amniocentesis revealed a karyotype of 47,XY,+12[1]/46,XY[14]. In 15 
      colonies of cultured amniocytes, all three cells in one colony had the karyotype 
      of 47,XY,+12, while the rest 14 colonies had the karyotype of 46,XY. The parental 
      karyotypes were normal. Prenatal ultrasound findings were unremarkable. 
      Polymorphic DNA marker analysis using the DNAs extracted from cultured amniocytes 
      and parental bloods excluded uniparental disomy (UPD) 12. At 37 weeks of 
      gestation, a healthy 2,828-g male baby was delivered with no phenotypic 
      abnormality. The cord blood had a karyotype of 46,XY in 40/40 lymphocytes. 
      Postnatal interphase fluorescence in situ hybridization (FISH) analysis on buccal 
      cells and urinary cells revealed normal signals in 72/72 buccal cells, and 
      trisomy 12 signals in 1/47 (2.1%) urinary cells compared with 0% (0/75 cells) of 
      trisomy 12 signals in the normal control. CONCLUSION: Mosaicism for trisomy 12 in 
      a single colony at amniocentesis without UPD 12 and fetal ultrasound 
      abnormalities 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 - Wu, Chao-Yun
AU  - Wu CY
AD  - Department of Obstetrics and Gynecology, Taitung MacKay Memorial Hospital, 
      Tatung, Taiwan.
FAU - Chern, Schu-Rern
AU  - Chern SR
AD  - Department of Medical Research, MacKay Memorial Hospital, 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, Wen-Lin
AU  - Chen WL
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
RN  - Chromosome 12, 12p trisomy
SB  - IM
MH  - Adult
MH  - Amniocentesis
MH  - Chromosomes, Human, Pair 12/genetics
MH  - Female
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Infant, Newborn
MH  - Live Birth/genetics
MH  - Male
MH  - Mosaicism
MH  - Pregnancy
MH  - Trisomy/*diagnosis/genetics
MH  - Ultrasonography, Prenatal
OTO - NOTNLM
OT  - Amniocentesis
OT  - Mosaicism
OT  - Single colony
OT  - Trisomy 12
COIS- Declaration of Competing Interest The authors have no conflicts of interest 
      relevant to this article.
EDAT- 2020/07/13 06:00
MHDA- 2021/04/21 06:00
CRDT- 2020/07/13 06:00
PHST- 2020/05/11 00:00 [accepted]
PHST- 2020/07/13 06:00 [entrez]
PHST- 2020/07/13 06:00 [pubmed]
PHST- 2021/04/21 06:00 [medline]
AID - S1028-4559(20)30122-4 [pii]
AID - 10.1016/j.tjog.2020.05.023 [doi]
PST - ppublish
SO  - Taiwan J Obstet Gynecol. 2020 Jul;59(4):604-606. doi: 10.1016/j.tjog.2020.05.023.