PMID- 35779924
OWN - NLM
STAT- MEDLINE
DCOM- 20220706
LR  - 20220706
IS  - 1875-6263 (Electronic)
IS  - 1028-4559 (Linking)
VI  - 61
IP  - 4
DP  - 2022 Jul
TI  - High-level mosaicism for 45,X in 45,X/46, XY at amniocentesis in a pregnancy with 
      a favorable fetal outcome and cytogenetic discrepancy in various tissues.
PG  - 695-699
LID - S1028-4559(22)00158-9 [pii]
LID - 10.1016/j.tjog.2022.05.007 [doi]
AB  - OBJECTIVE: We present prenatal diagnosis of high-level mosaicism for 45,X by 
      amniocentesis in a pregnancy with a favorable fetal outcome. CASE REPORT: A 
      35-year-old, gravida 2, para 1, woman underwent amniocentesis at 17 weeks of 
      gestation because of advanced maternal age. Amniocentesis revealed a karyotype of 
      45,X[13]/46,XY[11]. Simultaneous array comparative genomic hybridization (aCGH) 
      on uncultured amniocytes revealed the result of Yp11.3q11.21 x 0-1 [0.1], 
      Yq11.21q11.23 x 0-1 [0.6]. At 19 weeks of gestation, she underwent the second 
      amniocentesis which revealed a karyotype of 45,X[13]/46,XY[12], and aCGH and 
      multiplex ligation-dependent probe amplification (MLPA) on uncultured amniocytes 
      showed 37% mosaicism for Y-deleted cells. At 28 weeks of gestation, she underwent 
      the third amniocentesis which revealed a karyotype of 45,X[25]/46,XY[25], and 
      aCGH on uncultured amniocytes revealed the result of Yq11.21q11.23 x 0.5, 
      Yq11.23q12 x 0.7. Interphase fluorescence in situ hybridization (FISH) analysis 
      on uncultured amniocytes revealed that 16.67% (20/120 cells) were Y-deleted 
      cells. The parental karyortypes and prenatal ultrasound were normal. At 37 weeks 
      of gestation, a 2707-g phenotypically normal male baby was delivered with normal 
      male external genitalia. The karyotypes of cord blood, umbilical cord and 
      placenta were 45,X[25]/46,XY[15], 45,X[18]/46,XY[22] and 45,X[25]/46,XY[15], 
      respectively. When follow-up at age five months, the neonate was normal in 
      external genitalia and physical development. The peripheral blood had a karyotype 
      of 45,X[29]/46,XY[11], and FISH analysis on 100 buccal mucosal cells showed no 
      abnormal signals. When follow-up at age 11 months, the neonate was physically 
      normal, and the peripheral blood had a karyotype of 45,X[17]/46,XY[23]. 
      CONCLUSION: High-level mosaicism for 45,X in 45,X/46, XY at amniocentesis can be 
      associated with a favorable fetal outcome despite the presence of cytogenetic 
      discrepancy in various tissues.
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. Electronic address: cpc_mmh@yahoo.com.
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 - Lee, Chen-Chi
AU  - Lee CC
AD  - Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, 
      Taiwan.
FAU - Pan, Chen-Wen
AU  - Pan CW
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  - Comparative Genomic Hybridization
MH  - Female
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Karyotyping
MH  - Male
MH  - *Mosaicism
MH  - Pregnancy
OTO - NOTNLM
OT  - 45,X/46,XY
OT  - Amniocentesis
OT  - Mosaicism
OT  - Turner syndrome
COIS- Declaration of competing interest The authors have no conflicts of interest 
      relevant to this article.
EDAT- 2022/07/03 06:00
MHDA- 2022/07/07 06:00
CRDT- 2022/07/02 21:04
PHST- 2022/05/12 00:00 [accepted]
PHST- 2022/07/02 21:04 [entrez]
PHST- 2022/07/03 06:00 [pubmed]
PHST- 2022/07/07 06:00 [medline]
AID - S1028-4559(22)00158-9 [pii]
AID - 10.1016/j.tjog.2022.05.007 [doi]
PST - ppublish
SO  - Taiwan J Obstet Gynecol. 2022 Jul;61(4):695-699. doi: 10.1016/j.tjog.2022.05.007.