PMID- 36720528
OWN - NLM
STAT- MEDLINE
DCOM- 20230202
LR  - 20230202
IS  - 1875-6263 (Electronic)
IS  - 1028-4559 (Linking)
VI  - 62
IP  - 1
DP  - 2023 Jan
TI  - Mosaic 46,XY,der(15)t(6;15)(q25.1;p12)/46,XY at amniocentesis in a pregnancy 
      associated with a favorable fetal outcome and postnatal decrease of the aneuploid 
      cell line with the unbalanced translocation.
PG  - 142-147
LID - S1028-4559(22)00356-4 [pii]
LID - 10.1016/j.tjog.2022.01.013 [doi]
AB  - OBJECTIVE: We present mosaic 46,XY,der(15)t(6;15)(q25.1;p12)/46,XY at 
      amniocentesis in a pregnancy associated with a favorable fetal outcome and 
      postnatal decrease of the aneuploid cell line with the unbalanced translocation. 
      CASE REPORT: A 34-year-old primigravid woman underwent amniocentesis at 17 weeks 
      of gestation because of advanced maternal age. Amniocentesis revealed a karyotype 
      of 46,XY,add(15)(p12)[17]/46,XY[5]. A second amniocentesis at 19 weeks of 
      gestation revealed a karyotype of 46,XY,der(15)t(6;15)(q25.1;p12)[12]/46,XY[8], 
      and array comparative genomic hybridization (aCGH) analysis on the DNA extracted 
      from uncultured amniocytes revealed arr arr 6q25.1q27x2-3 with 40% mosaic level. 
      She was referred for genetic counseling. Prenatal ultrasound and the parental 
      karyotypes were normal. A third amniocentesis at 24 weeks of gestation revealed a 
      karyotype of 46,XY,der(15)t(6;15)(q25.1;p12)[23]/46,XY[1], and in uncultured 
      amniocytes, aCGH analysis revealed arr 6q25.1q27x2.5, interphase fluorescence in 
      situ hybridization (FISH) revealed 51% mosaicism (51/100 cells) for partial 
      trisomy 6q and quantitative fluorescence polymerase chain reaction (QF-PCR) 
      analysis determined maternal origin of the aberrant chromosome and excluded 
      uniparental disomy (UPD) 15 and UPD 6. A fourth amniocentesis at 27 weeks of 
      gestation revealed a karyotype of 46,XY,der(15)t(6;15)(q25.1;p12)[21]/46,XY[5], 
      and in uncultured amniocytes, aCGH analysis revealed arr 6q25.1q27x2.46, and 
      interphase FISH revealed 35% mosaicism (35/100 cells) for partial trisomy 6q. At 
      39 weeks of gestation, a healthy 3028-g male baby was delivered without any 
      phenotypic abnormality. The karyotypes of cord blood, umbilical cord and placenta 
      were 
      46,XY,der(15)t(6;15)(q25.1;p12)[2]/46,XY,der(15)t(6;15)(q25.1;p12)[29]/46,XY[11] 
      and 46,XY, respectively. When follow-up at age one month, the neonate was 
      phenotypically normal, the peripheral blood had a karyotype of 46,XY 
      (40/40 cells), and FISH analysis on 105 buccal mucosal cells detected five cells 
      with partial trisomy 6q compared with 2% mosaicism (2/100 cells) in the normal 
      control. CONCLUSION: Mosaicism for an unbalanced translocation with a normal cell 
      line without UPD at amniocentesis can be a transient and benign condition, and 
      can be associated with a favorable fetal outcome and postnatal decrease of the 
      aneuploid cell line.
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 - Chen, Shin-Wen
AU  - Chen SW
AD  - Department of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, 
      Taiwan.
FAU - Chen, Yi-Yung
AU  - Chen YY
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 - Wu, Fang-Tzu
AU  - Wu FT
AD  - Department of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, 
      Taiwan.
FAU - Pan, Yen-Ting
AU  - Pan YT
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, 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
PT  - Journal Article
PL  - China (Republic : 1949- )
TA  - Taiwan J Obstet Gynecol
JT  - Taiwanese journal of obstetrics & gynecology
JID - 101213819
RN  - 6q+ Syndrome, Partial
SB  - IM
MH  - Pregnancy
MH  - Female
MH  - Male
MH  - Humans
MH  - *Amniocentesis
MH  - *Trisomy/genetics
MH  - In Situ Hybridization, Fluorescence
MH  - Comparative Genomic Hybridization
MH  - Mosaicism
MH  - Karyotype
MH  - Uniparental Disomy
MH  - Translocation, Genetic
MH  - Cell Line
OTO - NOTNLM
OT  - 6q25.1q27 duplication
OT  - Amniocentesis
OT  - Favorable fetal outcome
OT  - Mosaicism
OT  - Unbalanced translocation
COIS- Conflict of interest The authors have no conflicts of interest relevant to this 
      article.
EDAT- 2023/02/01 06:00
MHDA- 2023/02/03 06:00
CRDT- 2023/01/31 20:54
PHST- 2022/01/07 00:00 [accepted]
PHST- 2023/01/31 20:54 [entrez]
PHST- 2023/02/01 06:00 [pubmed]
PHST- 2023/02/03 06:00 [medline]
AID - S1028-4559(22)00356-4 [pii]
AID - 10.1016/j.tjog.2022.01.013 [doi]
PST - ppublish
SO  - Taiwan J Obstet Gynecol. 2023 Jan;62(1):142-147. doi: 10.1016/j.tjog.2022.01.013.