PMID- 31759541
OWN - NLM
STAT- MEDLINE
DCOM- 20200504
LR  - 20210311
IS  - 1875-6263 (Electronic)
IS  - 1028-4559 (Linking)
VI  - 58
IP  - 6
DP  - 2019 Nov
TI  - Prenatal diagnosis of mosaicism for trisomy 7 in a single colony at amniocentesis 
      in a pregnancy with a favorable outcome.
PG  - 852-854
LID - S1028-4559(19)30227-X [pii]
LID - 10.1016/j.tjog.2019.09.022 [doi]
AB  - OBJECTIVE: We present prenatal diagnosis of mosaicism for trisomy 7 in a single 
      colony at amniocentesis with a favorable outcome. CASE REPORT: A 40-year-old 
      woman underwent amniocentesis at 17 weeks of gestation because of advanced 
      maternal age. Amniocentesis revealed a result of 47,XY,+7[1]/46,XY[26]. In 27 
      colonies of cultured amniocytes, all five cells in one colony had trisomy 7, 
      while the rest 26 colonies had a normal karyotype. The parental karyotypes were 
      normal. Repeat amniocentesis was performed at 19 weeks of gestation. Interphase 
      fluorescence in situ hybridization (FISH) was applied on the uncultured 
      amniocytes, and the result showed trisomy 7 signals in 4% (3/75 cells) of the 
      uncultured amniocytes compared with 1.4% (1/70 cells) in the normal control. 
      Uniparental disomy (UPD) 7 was excluded by polymorphic DNA marker analysis. The 
      cultured amniocytes at repeat amniocentesis had a karyotype of 46,XY. Prenatal 
      ultrasound findings were unremarkable. A healthy 3332-g male baby was delivered 
      at 38 weeks of gestation. The karyotype of cord blood lymphocytes was 46,XY. The 
      boy was phenotypically normal at age 8 months at follow-up. No trisomy 7 signal 
      could be detected in the postnatal FISH analysis of the urinary cells. 
      CONCLUSION: Mosaicism for trisomy 7 in a single colony at amniocentesis without 
      UPD 7 can be associated with a favorable outcome.
CI  - Copyright (c) 2019. 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 - Hung, Fang-Yu
AU  - Hung FY
AD  - Department of Obstetrics and Gynecology, Hsinchu MacKay Memorial Hospital, 
      Hsinchu, 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 - Town, Dai-Dyi
AU  - Town DD
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; 
      Department of Bioengineering, Tatung University, Taipei, Taiwan.
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - China (Republic : 1949- )
TA  - Taiwan J Obstet Gynecol
JT  - Taiwanese journal of obstetrics & gynecology
JID - 101213819
RN  - Chromosome 7, trisomy mosaic
SB  - IM
CIN - Taiwan J Obstet Gynecol. 2021 Mar;60(2):390-391. PMID: 33678357
MH  - Adult
MH  - Amniocentesis/*methods
MH  - Chromosomes, Human, Pair 7/genetics
MH  - Comparative Genomic Hybridization
MH  - Female
MH  - Humans
MH  - Mosaicism
MH  - Pregnancy
MH  - Prenatal Diagnosis/*methods
MH  - Trisomy/*diagnosis/genetics
MH  - Uniparental Disomy/*genetics
OTO - NOTNLM
OT  - Amniocentesis
OT  - Mosaicism
OT  - Prenatal diagnosis
OT  - Single colony
OT  - Trisomy 7
EDAT- 2019/11/25 06:00
MHDA- 2020/05/06 06:00
CRDT- 2019/11/25 06:00
PHST- 2019/09/06 00:00 [accepted]
PHST- 2019/11/25 06:00 [entrez]
PHST- 2019/11/25 06:00 [pubmed]
PHST- 2020/05/06 06:00 [medline]
AID - S1028-4559(19)30227-X [pii]
AID - 10.1016/j.tjog.2019.09.022 [doi]
PST - ppublish
SO  - Taiwan J Obstet Gynecol. 2019 Nov;58(6):852-854. doi: 10.1016/j.tjog.2019.09.022.