PMID- 36088060
OWN - NLM
STAT- MEDLINE
DCOM- 20220913
LR  - 20220913
IS  - 1875-6263 (Electronic)
IS  - 1028-4559 (Linking)
VI  - 61
IP  - 5
DP  - 2022 Sep
TI  - Progressive increase of the mosaic level for 45,X in 45,X/46, XX at different 
      amniocenteses and postnatal progressive decrease of the 45,X cell line in a 
      mosaic 45,X/46, XX fetus with a favorable outcome.
PG  - 876-879
LID - S1028-4559(22)00223-6 [pii]
LID - 10.1016/j.tjog.2022.07.003 [doi]
AB  - OBJECTIVE: We present progressive increase of the mosaic level for 45,X in 
      45,X/46, XX at different amniocenteses and postnatal progressive decrease of the 
      45,X cell line in a mosaic 45,X/46, XX fetus with a favorable outcome. CASE 
      REPORT: A 35-year-old, primigravid woman underwent amniocentesis at 16 weeks of 
      gestation because of the advanced maternal age. Amniocentesis revealed a 
      karyotype of 45,X [6]/46,XX [14]. Among 20 colonies of cultured amniocytes, six 
      colonies had a karyotype of 45,X, whereas the other 14 colonies had a karyotype 
      of 46,XX. Simultaneous array comparative genomic hybridization (aCGH) on 
      uncultured amniocytes revealed the result of arr [GRCh37] (X) x 1 [0.42] 
      (1-22) x 2. Prenatal ultrasound findings were unremarkable. Repeat amniocentesis 
      at 33 weeks of gestation revealed a karyotype of 45,X [13]/46,XX [7]. Among 20 
      colonies of cultured amniocytes, 13 colonies had a karyotype of 45,X, whereas the 
      other seven colonies had a karyotype of 46,XX. Simultaneous interphase 
      fluorescence in situ hybridization (FISH) analysis on 100 uncultured amniocytes 
      revealed that 44 cells had monosomy X consistent with 44% mosaicism for 45,X, 
      whereas the rest cells had disomy X. At 38 weeks of gestation, a 2675-g 
      phenotypically normal female baby was delivered. The karyotypes of cord blood, 
      umbilical cord and placenta were 45,X [12]/46,XX [28], 45,X [12]/46,XX [28] and 
      46,XX [40/40], respectively. When follow-up at age three months, the neonate was 
      normal in development. The karyotypes of peripheral blood was 45,X [4]/46,XX 
      [36], and interphase FISH analysis on 100 buccal mucosal cells showed monosomy X 
      in 11 cells consistent with 11% mosaicism for 45,X, whereas the rest cells had 
      disomy X. CONCLUSION: Progressive increase of the mosaic level for 45,X in 
      45,X/46, XX at different amniocenteses can be associated with a favorable outcome 
      and postnatal progressive decrease of the 45,X cell line.
CI  - Copyright (c) 2022. 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, Asia University, Taichung, Taiwan. Electronic address: 
      cpc_mmh@yahoo.com.
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 - Lee, Chen-Chi
AU  - Lee CC
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.
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  - Cell Line
MH  - Comparative Genomic Hybridization
MH  - Female
MH  - Fetus
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Mosaicism
MH  - Pregnancy
MH  - *Turner Syndrome
OTO - NOTNLM
OT  - 45,X mosaicism
OT  - 45,X/46,XX
OT  - Amniocentesis
OT  - Mosaic turner syndrome
COIS- Declaration of competing interest The authors have no conflicts of interest 
      relevant to this article.
EDAT- 2022/09/11 06:00
MHDA- 2022/09/14 06:00
CRDT- 2022/09/10 21:05
PHST- 2022/07/06 00:00 [accepted]
PHST- 2022/09/10 21:05 [entrez]
PHST- 2022/09/11 06:00 [pubmed]
PHST- 2022/09/14 06:00 [medline]
AID - S1028-4559(22)00223-6 [pii]
AID - 10.1016/j.tjog.2022.07.003 [doi]
PST - ppublish
SO  - Taiwan J Obstet Gynecol. 2022 Sep;61(5):876-879. doi: 10.1016/j.tjog.2022.07.003.