PMID- 37407204
OWN - NLM
STAT- MEDLINE
DCOM- 20230707
LR  - 20230718
IS  - 1875-6263 (Electronic)
IS  - 1028-4559 (Linking)
VI  - 62
IP  - 4
DP  - 2023 Jul
TI  - Mosaicism for a 15q11.2 microduplication with a normal euploid cell line at 
      amniocentesis in a pregnancy with a favorable fetal outcome and postnatal 
      decrease of the aneuploid cell line with the microduplication.
PG  - 602-605
LID - S1028-4559(23)00148-1 [pii]
LID - 10.1016/j.tjog.2023.05.011 [doi]
AB  - OBJECTIVE: We present mosaicism for a 15q11.2 microduplication with a normal 
      euploid cell line at amniocentesis in a pregnancy with a favorable fetal outcome 
      and postnatal decrease of the aneuploid cell line with the microduplication. CASE 
      REPORT: A 35-year-old, primigravid woman underwent amniocentesis at 17 weeks of 
      gestation because of advanced maternal age. Amniocentesis revealed a karyotype of 
      46,XY. Simultaneous array comparative genomic hybridization (aCGH) analysis on 
      the DNA extracted from uncultured amniocytes revealed 33.76% mosaicism for a 
      15q11.2 microduplication. She was referred for genetic counseling. Repeat 
      amniocentesis was performed at 23 weeks of gestation, and the karyotype was 
      46,XY. Simultaneous aCGH analysis on the DNA extracted from uncultured amniocytes 
      revealed the result of arr [GRCh37 (hg19)] 15q11.2 (23, 889, 
      686-25,514,125) x 2.45, consistent with a mosaic 1.624-Mb microduplication with 
      the mosaic level of 40%-45% (log(2) ratio = 0.28) encompassing nine OMIM genes of 
      MAGEL2, NDN, PWRN2, PWRN1, NPAP1, SNRPN, SNHG14, SNORD116-1 and SNORD115-1. 
      Interphase fluorescence in situ hybridization (FISH) analysis on 100 uncultured 
      amniocytes detected a 15q11.2 duplication in 19 cells, consistent with 19% 
      (19/100 cells) mosaic15q11.2 duplication. Polymorphic DNA marker analysis 
      excluded uniparental disomy (UPD) 15. Prenatal ultrasound findings were 
      unremarkable. She was advised to continue the pregnancy, and a 3865-g 
      phenotypically normal male baby was delivered. aCGH analysis on the DNA extracted 
      from cord blood at birth and buccal mucosal cells at age four months revealed arr 
      (1-22) x 2, X x 1, Y x 1 and detected no genomic imbalance in all samples. 
      Interphase FISH analysis on 104 buccal mucosal cells at age four months detected 
      four cells (4/104 = 4%) with a 15q11.2 duplication, compared with 0% 
      (0/102 cells) in the normal control. The neonate was normal in the development. 
      CONCLUSION: Mosaicism for a 15q11.2 microduplication at amniocentesis with a 
      normal euploid cell line can be a benign condition and associated with a 
      favorable fetal outcome and postnatal decrease of the aneuploid cell line with 
      the microduplication.
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 - 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 - Wu, Peih-Shan
AU  - Wu PS
AD  - Gene Biodesign Co. Ltd, 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
RN  - 0 (MAGEL2 protein, human)
RN  - 0 (Proteins)
SB  - IM
MH  - Pregnancy
MH  - Female
MH  - Male
MH  - Humans
MH  - *Amniocentesis
MH  - *Mosaicism
MH  - In Situ Hybridization, Fluorescence
MH  - Comparative Genomic Hybridization
MH  - Aneuploidy
MH  - Cell Line
MH  - Trisomy
MH  - Proteins/genetics
OTO - NOTNLM
OT  - 15q11.2 microduplication
OT  - Amniocentesis
OT  - Favorable fetal outcome
OT  - Mosaicism
COIS- Declaration of competing interest The authors have no conflicts of interest 
      relevant to this article.
EDAT- 2023/07/06 01:08
MHDA- 2023/07/07 06:42
CRDT- 2023/07/05 20:57
PHST- 2023/05/03 00:00 [accepted]
PHST- 2023/07/07 06:42 [medline]
PHST- 2023/07/06 01:08 [pubmed]
PHST- 2023/07/05 20:57 [entrez]
AID - S1028-4559(23)00148-1 [pii]
AID - 10.1016/j.tjog.2023.05.011 [doi]
PST - ppublish
SO  - Taiwan J Obstet Gynecol. 2023 Jul;62(4):602-605. doi: 10.1016/j.tjog.2023.05.011.