PMID- 23276565
OWN - NLM
STAT- MEDLINE
DCOM- 20130624
LR  - 20130101
IS  - 1875-6263 (Electronic)
IS  - 1028-4559 (Linking)
VI  - 51
IP  - 4
DP  - 2012 Dec
TI  - Mosaic trisomy 2 at amniocentesis: prenatal diagnosis and molecular genetic 
      analysis.
PG  - 603-11
LID - S1028-4559(12)00192-1 [pii]
LID - 10.1016/j.tjog.2012.09.016 [doi]
AB  - OBJECTIVE: This study aims at presenting prenatal diagnosis of mosaic trisomy 2 
      and reviewing the literature. MATERIALS, METHODS, AND RESULTS: A 32-year-old 
      woman underwent amniocentesis at 21 weeks of gestation because of abnormal 
      maternal serum biochemistry. Amniocentesis revealed a karyotype of 
      47,XY,+2[1]/46,XY[21] in in situ cultures. The single colony with trisomy 2 had 
      two metaphase cells, and both had the karyotype of 47,XY,+2. Repeated 
      amniocentesis was performed at 23 weeks of gestation. Interphase fluorescence in 
      situ hybridization (FISH) analysis on uncultured amniocytes using a 
      2q11.1-specific probe RP11-468G5 (spectrum green) showed three green signals in 
      11 of 47 uncultured amniocytes, indicating 23.4% mosaicism for trisomy 2. The 
      cultured amniocytes had a karyotype of 46,XY[20 colonies]. Polymorphic DNA marker 
      analysis excluded uniparental disomy 2. The woman underwent the third 
      amniocentesis at 25 weeks of gestation. Interphase FISH analysis on uncultured 
      amniocytes revealed 9.4% (5/53 cells) mosaicism for trisomy 2. The cultured 
      amniocytes had a karyotype of 46,XY[30 colonies]. Prenatal ultrasound was normal. 
      The parents decided to continue the pregnancy to term, and a 3316-g baby was 
      delivered with no phenotypic abnormalities. Cord blood had a karyotype of 
      46,XY[40 cells]. Interphase FISH analysis on uncultured urinary cells revealed 
      8.2% (4/49 cells) mosaicism for trisomy 2. The neonate was normal in growth and 
      psychomotor development at 6 months of age. CONCLUSION: Prenatal diagnosis of a 
      single colony with two or more cells with trisomy 2 at amniocentesis should alert 
      a clinically significant aneuploidy, and interphase FISH on uncultured amniocytes 
      is useful for rapid confirmation of low-level trisomy 2 mosaicism at 
      amniocentesis. The abnormal cell line of trisomy 2 may disappear after long-term 
      amniocyte cultures.
CI  - Copyright (c) 2012. Published by Elsevier B.V.
FAU - Chen, Chih-Ping
AU  - Chen CP
AD  - Department of Medicine, Mackay Medical College, New Taipei City, Taiwan. 
      cpc_mmh@yahoo.com
FAU - Su, Yi-Ning
AU  - Su YN
FAU - Chern, Schu-Rern
AU  - Chern SR
FAU - Chen, Yu-Ting
AU  - Chen YT
FAU - Wu, Peih-Shan
AU  - Wu PS
FAU - Su, Jun-Wei
AU  - Su JW
FAU - Pan, Chen-Wen
AU  - Pan CW
FAU - Wang, Wayseen
AU  - Wang W
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PT  - Review
PL  - China (Republic : 1949- )
TA  - Taiwan J Obstet Gynecol
JT  - Taiwanese journal of obstetrics & gynecology
JID - 101213819
RN  - Chromosome 2, trisomy 2q
SB  - IM
MH  - Abnormal Karyotype
MH  - Adult
MH  - Amniocentesis
MH  - Chromosomes, Human, Pair 2
MH  - Female
MH  - Humans
MH  - Infant, Newborn
MH  - Live Birth/*genetics
MH  - Male
MH  - *Mosaicism
MH  - Pregnancy
MH  - Term Birth
MH  - Trisomy/*diagnosis
MH  - Ultrasonography, Prenatal
EDAT- 2013/01/02 06:00
MHDA- 2013/06/26 06:00
CRDT- 2013/01/02 06:00
PHST- 2012/08/02 00:00 [accepted]
PHST- 2013/01/02 06:00 [entrez]
PHST- 2013/01/02 06:00 [pubmed]
PHST- 2013/06/26 06:00 [medline]
AID - S1028-4559(12)00192-1 [pii]
AID - 10.1016/j.tjog.2012.09.016 [doi]
PST - ppublish
SO  - Taiwan J Obstet Gynecol. 2012 Dec;51(4):603-11. doi: 10.1016/j.tjog.2012.09.016.