PMID- 36965906
OWN - NLM
STAT- MEDLINE
DCOM- 20230328
LR  - 20230328
IS  - 1875-6263 (Electronic)
IS  - 1028-4559 (Linking)
VI  - 62
IP  - 2
DP  - 2023 Mar
TI  - Mosaic 46,XY,dup(14) (q12q22.3)/46, XY at amniocentesis in a pregnancy associated 
      with a favorable fetal outcome and cytogenetic discrepancy in various tissues.
PG  - 343-347
LID - S1028-4559(23)00035-9 [pii]
LID - 10.1016/j.tjog.2023.01.003 [doi]
AB  - OBJECTIVE: We present mosaic 46,XY,dup (14) (q12q22.3)/46, XY at amniocentesis in 
      a pregnancy associated with a favorable fetal outcome and cytogenetic discrepancy 
      in various tissues. CASE REPORT: A 41-year-old, primigravid woman underwent 
      amniocentesis at 17 weeks of gestation because of advanced maternal age. This 
      pregnancy was conceived by in vitro fertilization and embryo transfer. 
      Cytogenetic analysis on cultured amniocytes revealed a karyotype of 46,XY, dup 
      (14) (q12q22.3)[7]/46,XY [13], and simultaneous array comparative genomic 
      hybridization (aCGH) analysis on the DNA extracted from uncultured amniocytes 
      revealed arr 14q12q22.3 x 2-3 with 25% mosaicism for partial 14q duplication. She 
      was referred for genetic counseling. Prenatal ultrasound and parental karyotypes 
      were normal. Repeat amniocentesis at 22 weeks of gestation revealed a karyotype 
      of 46,XY,dup (14) (q12q22.3)[6]/46,XY [14], and in uncultured amniocytes, 
      quantitative fluorescence polymerase chain reaction (QF-PCR) analysis excluded 
      uniparental disomy (UPD) 14, aCGH revealed arr 14q12q22.3 x 2.3 with 30% 
      mosaicism for dup (14) (q12q22.3), and interphase fluorescence in situ 
      hybridization (FISH) showed 19.4% (24/124 cells) mosaicism for partial 14q 
      duplication. She was encouraged to continue the pregnancy, and a 2450-g 
      phenotypically normal male baby was delivered at 40 weeks of gestation. The 
      karyotypes of cord blood, umbilical cord and placenta were 46,XY,dup (14) 
      (q12q22.3)[14]/46,XY [26], 46,XY,dup (14) (q12q22.3)[7]/46,XY [33] and 46,XY,dup 
      (14) (q12q22.3)[3]/46,XY [37], respectively. When follow-up at age four months, 
      the neonate was phenotypically normal. The karyotype of peripheral blood was 
      46,XY,dup (14) (q12q22.3)[27]/46,XY [13], and interphase FISH analysis on 105 
      buccal mucosal cells detected partial 14q duplication signals in 5 cells (4.8% 
      mosaicism). When follow-up at age nine months, the neonate was phenotypically 
      normal. The karyotype of peripheral blood was 46,XY,dup (14) (q12q22.3)[25]/46,XY 
      [15]. CONCLUSION: Mosaic dup (14) (q12q22.3) with a normal cell line at 
      amniocentesis may be a benign condition, and can be associated with a favorable 
      fetal outcome and cytogenetic discrepancy in various tissues.
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 & 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 - Chen, Chen-Yu
AU  - Chen CY
AD  - Department of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, 
      Taiwan; Department of Medicine, MacKay Medical College, New Taipei City, Taiwan; 
      MacKay Junior College of Medicine, Nursing and Management, Taipei, Taiwan.
FAU - Chen, Shin-Wen
AU  - Chen SW
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 - 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 - Lee, Meng-Shan
AU  - Lee MS
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  - Pregnancy
MH  - Female
MH  - Male
MH  - Humans
MH  - *Amniocentesis
MH  - Comparative Genomic Hybridization
MH  - In Situ Hybridization, Fluorescence
MH  - Cytogenetic Analysis
MH  - *Mosaicism
MH  - Karyotype
MH  - Trisomy
OTO - NOTNLM
OT  - Amniocentesis
OT  - Cytogenetic discrepancy
OT  - Fetal outcome
OT  - Mosaic dup(14q)
COIS- Declaration of competing interest The authors have no conflicts of interest 
      relevant to this article.
EDAT- 2023/03/26 06:00
MHDA- 2023/03/28 17:16
CRDT- 2023/03/25 22:08
PHST- 2023/01/07 00:00 [accepted]
PHST- 2023/03/28 17:16 [medline]
PHST- 2023/03/25 22:08 [entrez]
PHST- 2023/03/26 06:00 [pubmed]
AID - S1028-4559(23)00035-9 [pii]
AID - 10.1016/j.tjog.2023.01.003 [doi]
PST - ppublish
SO  - Taiwan J Obstet Gynecol. 2023 Mar;62(2):343-347. doi: 10.1016/j.tjog.2023.01.003.