PMID- 37679009
OWN - NLM
STAT- MEDLINE
DCOM- 20230911
LR  - 20230911
IS  - 1875-6263 (Electronic)
IS  - 1028-4559 (Linking)
VI  - 62
IP  - 5
DP  - 2023 Sep
TI  - Mosaicism for a 12p12.1p12.2 microdeletion with a normal euploid cell line at 
      amniocentesis in a pregnancy with a favorable outcome and postnatal decrease of 
      the aneuploid cell line with microdeletion.
PG  - 757-760
LID - S1028-4559(23)00195-X [pii]
LID - 10.1016/j.tjog.2023.07.022 [doi]
AB  - OBJECTIVE: We present mosaicism for a 12p12.1p12.2 microdeletion with a normal 
      euploid cell line at amniocentesis in a pregnancy with a favorable outcome and 
      postnatal decrease of the aneuploid cell line with microdeletion. CASE REPORT: A 
      35-year-old woman, gravida 2, para 1, underwent amniocentesis at 17 weeks of 
      gestation because of advanced maternal age. Amniocentesis revealed mosaic 
      46,XY,del (12) (p11.2p12), and array comparative genomic hybridization (aCGH) 
      revealed arr Xp22.31 x 2 mat, 12p12.2p12.1 x 1 [0.36]dn with a 4.15-Mb 36% 
      mosaicism for a 12p12.1p12.2 microdeletion. At 22 weeks of gestation, she 
      underwent cord blood sampling of which aCGH revealed arr Xp22.31 x 2 mat, 
      12p12.2p12.1 x 1 [0.34]dn with a 4.24-Mb 34% mosaicism for a 12p12.1p12.2 
      microdeletion. Prenatal ultrasound findings were unremarkable. She was referred 
      for genetic counseling, and continuing pregnancy was advised. A 2990-g male baby 
      was delivered at 38 weeks of gestation with no phenotypic abnormality. When 
      follow-up at age 1(1/2) months, the neonate was phenotypically normal. The karyotype 
      of peripheral blood was 46,XY. aCGH analysis on the DNA extracted from peripheral 
      blood revealed the result of arr 12p12.1p12.2 (20, 367, 240-24,489,386) x 1.87, 
      arr Xp22.31 (6,488,721-8,097,511) x 2.0 [GRCh37 (hg19)] with 10-15% (log(2) 
      ratio = 0.1) mosaicism for a 4.122-Mb 12p12.1-p12.2 microdeletion encompassing 17 
      OMIM genes of PDE3A, SLCO1C1, SLCO1B3, SLCO1B1, IAPP, PYROXD1, RECQL, GOLT1B, 
      SPX, GYS2, LDHB, KCNJ8, ABCCP, CMAS, C2CD5, ETNK1 and SOX5 and a 1.609-Mb Xp22.31 
      duplication encompassing two OMIM genes of STS and VCX. Interphase fluorescence 
      in situ hybridization (FISH) analysis on 104 buccal mucosal cells using 
      12p12.1-specific probe showed 17% (18/104 cells) mosaicism for a 12p12.1 
      deletion. Polymorphic DNA marker analysis on the DNA extracted from proband's 
      blood and parental bloods determined a paternal origin of the mosaic 12p12.1 
      deletion. CONCLUSION: Mosaicism for a 12p12.1p12.2 microdeletion at amniocentesis 
      with a normal euploid cell line can be a benign condition in association with a 
      favorable fetal outcome and postnatal decrease of the aneuploid cell line with 
      microdeletion.
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  - EC 3.6.4.12 (RecQ Helicases)
RN  - 0 (SLCO1B1 protein, human)
RN  - 0 (Liver-Specific Organic Anion Transporter 1)
RN  - 0 (SLCO1C1 protein, human)
RN  - 0 (Organic Anion Transporters)
SB  - IM
MH  - Male
MH  - Female
MH  - Pregnancy
MH  - Humans
MH  - Mosaicism
MH  - Amniocentesis
MH  - *Breast Neoplasms
MH  - Comparative Genomic Hybridization
MH  - In Situ Hybridization, Fluorescence
MH  - Genetic Predisposition to Disease
MH  - RecQ Helicases
MH  - Aneuploidy
MH  - Cell Line
MH  - Liver-Specific Organic Anion Transporter 1
MH  - *Organic Anion Transporters
OTO - NOTNLM
OT  - 12p12.1p12.2 microdeletion
OT  - Amniocentesis
OT  - Favorable outcome
OT  - Mosaicism
COIS- Conflict of Interest The authors have no conflicts of interest relevant to this 
      article.
EDAT- 2023/09/08 00:42
MHDA- 2023/09/11 06:43
CRDT- 2023/09/07 20:58
PHST- 2023/07/04 00:00 [accepted]
PHST- 2023/09/11 06:43 [medline]
PHST- 2023/09/08 00:42 [pubmed]
PHST- 2023/09/07 20:58 [entrez]
AID - S1028-4559(23)00195-X [pii]
AID - 10.1016/j.tjog.2023.07.022 [doi]
PST - ppublish
SO  - Taiwan J Obstet Gynecol. 2023 Sep;62(5):757-760. doi: 10.1016/j.tjog.2023.07.022.