PMID- 28420516
OWN - NLM
STAT- MEDLINE
DCOM- 20171120
LR  - 20171128
IS  - 1875-6263 (Electronic)
IS  - 1028-4559 (Linking)
VI  - 56
IP  - 2
DP  - 2017 Apr
TI  - Prenatal diagnosis and molecular cytogenetic characterization of low-level mosaic 
      trisomy 12 at amniocentesis associated with a favorable pregnancy outcome.
PG  - 238-242
LID - S1028-4559(17)30022-0 [pii]
LID - 10.1016/j.tjog.2017.01.005 [doi]
AB  - OBJECTIVE: We present prenatal diagnosis of low-level mosaic trisomy 12. CASE 
      REPORT: A 40-year-old woman underwent amniocentesis at 18 weeks of gestation 
      because of advanced maternal age, which revealed a karyotype of 
      47,XX,+12[5]/46,XX[24] consistent with 17.2% (5/29) mosaicism for trisomy 12. 
      Repeat amniocentesis performed at 21 weeks of gestation revealed a karyotype of 
      47,XX,+12[4]/46,XX[6] consistent with 40% (4/10) mosaicism for trisomy 12. 
      Interphase fluorescence in situ hybridization (FISH) on 112 uncultured amniocytes 
      detected 23 cells with trisomy 12 consistent with 20.5% (23/112) mosaicism for 
      trisomy 12. Polymorphic DNA marker analysis excluded uniparental disomy 12. Array 
      comparative genomic hybridization (aCGH) on uncultured amniocytes revealed a 
      result of arr 12p13.33q24.33 (230,451-133,773,499) x 2.2, 17p12 
      (14,191,925-15,442,037) x 1.0 consistent with 10-20% mosaic trisomy 12. The 
      father carried the 17p12 microdeletion. The fetal ultrasound findings were 
      unremarkable. A 3958-g female fetus was delivered at 37 weeks of gestation with 
      no phenotypic abnormality. The cord blood had a karyotype of 46,XX. Postnatal 
      interphase FISH on urinary cells revealed 7.14% (7/98) mosaicism for trisomy 12. 
      CONCLUSION: Low-level mosaic trisomy 12 at amniocentesis can be associated with a 
      favorable pregnancy outcome. Interphase FISH and aCGH on uncultured amniocytes 
      are useful for confirmation of low-level mosaic trisomy 12 at amniocentesis.
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 - Lin, Chen-Ju
AU  - Lin CJ
AD  - Department of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, 
      Taiwan; Department of Medicine, MacKay Medical College, New Taipei City, 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, Yen-Ni
AU  - Chen YN
AD  - Department of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, 
      Taiwan.
FAU - Chen, Shin-Wen
AU  - Chen SW
AD  - Department of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, 
      Taiwan.
FAU - Pan, Chen-Wen
AU  - Pan CW
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 - 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
SB  - IM
MH  - Adult
MH  - Amniocentesis
MH  - *Chromosome Deletion
MH  - *Chromosomes, Human, Pair 12
MH  - *Chromosomes, Human, Pair 17
MH  - Comparative Genomic Hybridization
MH  - Female
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Karyotype
MH  - Male
MH  - *Mosaicism
MH  - Phenotype
MH  - Pregnancy
MH  - Pregnancy Outcome
MH  - Prenatal Diagnosis
MH  - *Trisomy
OTO - NOTNLM
OT  - amniocentesis
OT  - mosaic trisomy 12
OT  - prenatal diagnosis
OT  - trisomy 12 mosaicism
EDAT- 2017/04/20 06:00
MHDA- 2017/11/29 06:00
CRDT- 2017/04/20 06:00
PHST- 2017/01/12 00:00 [accepted]
PHST- 2017/04/20 06:00 [entrez]
PHST- 2017/04/20 06:00 [pubmed]
PHST- 2017/11/29 06:00 [medline]
AID - S1028-4559(17)30022-0 [pii]
AID - 10.1016/j.tjog.2017.01.005 [doi]
PST - ppublish
SO  - Taiwan J Obstet Gynecol. 2017 Apr;56(2):238-242. doi: 10.1016/j.tjog.2017.01.005.