PMID- 29241930
OWN - NLM
STAT- MEDLINE
DCOM- 20180801
LR  - 20180801
IS  - 1875-6263 (Electronic)
IS  - 1028-4559 (Linking)
VI  - 56
IP  - 6
DP  - 2017 Dec
TI  - Prenatal diagnosis and molecular cytogenetic characterization of low-level 
      mosaicism for tetrasomy 18p at amniocentesis in a pregnancy with a favorable 
      outcome.
PG  - 836-839
LID - S1028-4559(17)30263-2 [pii]
LID - 10.1016/j.tjog.2017.10.024 [doi]
AB  - OBJECTIVE: We present prenatal diagnosis of low-level mosaicism for tetrasomy 18p 
      at amniocentesis in a pregnancy with a favorable outcome. CASE REPORT: A 
      40-year-old woman underwent amniocentesis at 17 weeks of gestation because of 
      advanced maternal age. Amniocentesis revealed a de novo supernumerary 
      isochromosome 18p in eight of 39 colonies of cultured amniocytes. The karyotype 
      was 47,XX,+i(18)(p10)[8]/46,XX[31]. Array comparative genomic hybridization 
      (aCGH) analysis using uncultured amniocytes revealed arr 18p11.32p11.21 [hg 19] 
      (148,963-14,081,887) x 2-3. Repeat amniocentesis was performed at 20 weeks of 
      gestation. Interphase fluorescence in situ hybridization (FISH) analysis showed 
      four 18p11.22-specific probe (RP11-918F20) signals in 11.7% (12/103 cells) of 
      uncultured amniocytes. aCGH analysis on uncultured amniocytes did not detect 
      genomic imbalance in chromosome 18. The parental karyotypes were normal. 
      Polymorphic DNA marker analysis excluded uniparental disomy 18. Cytogenetic 
      analysis of cultured amniocytes at repeat amniocentesis revealed a karyotype of 
      47,XX,+i(18)(p10)[2]/46,XX[12]. Prenatal ultrasound was unremarkable. The 
      pregnancy was carried to 38 weeks of gestation, and a 2742-g phenotypically 
      normal female baby was delivered with a cord blood karyotype of 46,XX. When 
      examined at 8 months of age, the infant was normal in growth and psychomotor 
      development. Interphase FISH analysis on 21 uncultured urinary cells revealed 
      normal signals in all cells and no mosaic tetrasomy 18p. CONCLUSION: Low-level 
      mosaic tetrasomy 18p at amniocentesis without ultrasound abnormalities can be 
      associated with a favorable outcome.
CI  - Copyright (c) 2017. 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 
      University, Taipei, Taiwan; Department of Obstetrics and Gynecology, School of 
      Medicine, National Yang-Ming University, Taipei, Taiwan. Electronic address: 
      cpc_mmh@yahoo.com.
FAU - Ko, Tsang-Ming
AU  - Ko TM
AD  - Genephile Bioscience Laboratory, Ko's Obstetrics and Gynecology, 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 - Chen, Shin-Wen
AU  - Chen SW
AD  - Department of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, 
      Taiwan.
FAU - Lai, Shih-Ting
AU  - Lai ST
AD  - Department of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, 
      Taiwan.
FAU - Chuang, Tzu-Yun
AU  - Chuang TY
AD  - Department of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, 
      Taiwan.
FAU - Yang, Chien-Wen
AU  - Yang CW
AD  - Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan.
FAU - Pan, Chen-Wen
AU  - Pan CW
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; 
      Department of Bioengineering, Tatung University, 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  - Chromosome 18, tetrasomy 18p
SB  - IM
MH  - Adult
MH  - Amniocentesis/*methods
MH  - Aneuploidy
MH  - Chromosome Disorders/*diagnosis/embryology/genetics
MH  - Chromosomes, Human, Pair 18/genetics
MH  - Comparative Genomic Hybridization/methods
MH  - Cytogenetic Analysis/methods
MH  - Female
MH  - Humans
MH  - In Situ Hybridization, Fluorescence/methods
MH  - Infant, Newborn
MH  - Karyotype
MH  - Live Birth
MH  - Maternal Age
MH  - Mosaicism/*embryology
MH  - Pregnancy
OTO - NOTNLM
OT  - Amniocentesis
OT  - Mosaic tetrasomy 18p
OT  - Prenatal diagnosis
OT  - Supernumerary isochromosome 18p
EDAT- 2017/12/16 06:00
MHDA- 2018/08/02 06:00
CRDT- 2017/12/16 06:00
PHST- 2017/10/17 00:00 [accepted]
PHST- 2017/12/16 06:00 [entrez]
PHST- 2017/12/16 06:00 [pubmed]
PHST- 2018/08/02 06:00 [medline]
AID - S1028-4559(17)30263-2 [pii]
AID - 10.1016/j.tjog.2017.10.024 [doi]
PST - ppublish
SO  - Taiwan J Obstet Gynecol. 2017 Dec;56(6):836-839. doi: 10.1016/j.tjog.2017.10.024.