PMID- 33966745
OWN - NLM
STAT- MEDLINE
DCOM- 20211020
LR  - 20211020
IS  - 1875-6263 (Electronic)
IS  - 1028-4559 (Linking)
VI  - 60
IP  - 3
DP  - 2021 May
TI  - Prenatal diagnosis of mosaicism for double aneuploidy of 47,XXY and trisomy 7 
      (48,XXY,+7) at amniocentesis in a pregnancy with a favorable outcome.
PG  - 543-548
LID - S1028-4559(21)00080-2 [pii]
LID - 10.1016/j.tjog.2021.03.029 [doi]
AB  - OBJECTIVE: We present prenatal diagnosis of mosaicism for double aneuploidy of 
      47, XXY and trisomy 7 (48,XXY,+7) at amniocentesis in a pregnancy with a 
      favorable outcome. CASE REPORT: A 33-year-old woman underwent amniocentesis at 17 
      weeks of gestation because of an increased risk for Down syndrome in maternal 
      serum screening. Amniocentesis revealed a karyotype of 48,XXY,+7[8]/46,XY[16]. 
      Simultaneous array comparative genomic hybridization (aCGH) analysis on 
      uncultured amniocytes revealed the result of arr [GRCh37] (7) x 3 [0.54], (X) x 2 
      [0.52], (Y) x 1, compatible with trisomy 7 mosaicism and Klinefelter syndrome 
      mosaicism. The parental karyotypes and prenatal ultrasound findings were normal. 
      Repeat amniocentesis performed at 23 weeks of gestation revealed a karyotype of 
      48,XXY,+7[13]/46,XY[7]. Simultaneous molecular cytogenetic analyses on uncultured 
      amniocytes revealed 30% mosaicism for 48,XXY,+7 by aCGH and 37% (37/100 cells) 
      mosaicism for trisomy 7 and disomy X by interphase fluorescence in situ 
      hybridization (FISH) analysis. Polymorphic DNA marker analysis excluded 
      uniparental disomy (UPD) 7 and indicated a maternal origin of the chromosome 
      aberration. The pregnancy was continued to 39 weeks of gestation, and a 3070-g 
      healthy male baby was delivered. The cord blood had a karyotype of 46,XY, the 
      umbilical cord had a karyotype of 48,XXY,+7[3]/46,XY[37], and the placenta had a 
      karyotype of 48,XXY,+7. At age one month, the neonate was phenotypically normal, 
      and interphase FISH analysis revealed 4.8% (5/105 cells) mosaicism on buccal 
      mucosal cells and 8.9% (8/90 cells) mosaicism on urinary cells for trisomy 7 and 
      disomy X, compared with 2% in normal control. Interphase FISH analysis on buccal 
      mucosal cells at age two months revealed normal findings in 100/100 cells. 
      CONCLUSION: Mosaic 48,XXY,+7 at amniocentesis without UPD 7 can be associated 
      with a favorable fetal outcome. Cytogenetic discrepancy between cultured 
      amniocytes and uncultured amniocytes may occur in mosaic 48,XXY,+7 at 
      amniocentesis.
CI  - Copyright (c) 2021. 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; 
      Department of Biotechnology, Asia University, Taichung, 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 - Tsai, Hsiu-Ting
AU  - Tsai HT
AD  - Department of Obstetrics and Gynecology, Tri-Service General Hospital Penghu 
      Branch, Penghu, 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 - 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 - Chen, Yun-Yi
AU  - Chen YY
AD  - Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan.
FAU - Town, Dai-Dyi
AU  - Town DD
AD  - Department of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, 
      Taiwan.
FAU - Chen, Wen-Lin
AU  - Chen WL
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 - 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  - Chromosome 7, trisomy mosaic
SB  - IM
MH  - Adult
MH  - *Amniocentesis
MH  - *Aneuploidy
MH  - Chromosomes, Human, Pair 7/genetics
MH  - Comparative Genomic Hybridization
MH  - Cytogenetic Analysis
MH  - Female
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Infant, Newborn
MH  - Karyotype
MH  - Karyotyping
MH  - Live Birth/*genetics
MH  - Male
MH  - Mosaicism/embryology
MH  - Pregnancy
MH  - Sex Chromosome Aberrations/*embryology
MH  - Trisomy/*genetics
MH  - Uniparental Disomy/*genetics
OTO - NOTNLM
OT  - 47,XXY
OT  - 48,XXY,+7
OT  - Amniocentesis
OT  - Mosaicism
OT  - Trisomy 7
COIS- Declaration of competing interest The authors have no conflicts of interest 
      relevant to this article.
EDAT- 2021/05/11 06:00
MHDA- 2021/10/21 06:00
CRDT- 2021/05/10 06:02
PHST- 2021/03/17 00:00 [accepted]
PHST- 2021/05/10 06:02 [entrez]
PHST- 2021/05/11 06:00 [pubmed]
PHST- 2021/10/21 06:00 [medline]
AID - S1028-4559(21)00080-2 [pii]
AID - 10.1016/j.tjog.2021.03.029 [doi]
PST - ppublish
SO  - Taiwan J Obstet Gynecol. 2021 May;60(3):543-548. doi: 10.1016/j.tjog.2021.03.029.