PMID- 23276569
OWN - NLM
STAT- MEDLINE
DCOM- 20130624
LR  - 20130101
IS  - 1875-6263 (Electronic)
IS  - 1028-4559 (Linking)
VI  - 51
IP  - 4
DP  - 2012 Dec
TI  - Prenatal diagnosis of mosaic tetrasomy 18p.
PG  - 625-9
LID - S1028-4559(12)00196-9 [pii]
LID - 10.1016/j.tjog.2012.09.020 [doi]
AB  - OBJECTIVE: To present prenatal diagnosis and molecular cytogenetic 
      characterization of a small supernumerary marker chromosome derived from 
      isochromosome 18p, by interphase fluorescence in situ hybridization (FISH) on 
      uncultured amniocytes. CASE REPORT: A 41-year-old woman underwent amniocentesis 
      at 18 weeks of gestation, because of advanced maternal age. Amniocentesis 
      revealed a de novo supernumerary isochromosome 18p in two of 14 colonies of 
      cultured amniocytes. Repeated amniocentesis was performed at 22 weeks of 
      gestation. Interphase FISH analysis on uncultured amniocytes showed four 
      18p11.32-specific probe (RP11-324G2) signals in 5.7% (3/53 cells) of uncultured 
      amniocytes. A multiplex ligation-dependent probe amplification P095 test kit and 
      array comparative genomic hybridization analysis did not detect genomic imbalance 
      in chromosome 18. Cytogenetic analysis of cultured amniocytes at repeated 
      amniocentesis revealed a karyotype of 47,XY,+i(18)(p10)[3]/46,XY[23]. The 
      pregnancy was carried to 38 weeks of gestation, and a healthy 3120 g male baby 
      was delivered. When examined at 2 months of age, the infant was normal in growth 
      and development, without phenotypic abnormalities. The cord blood had a karyotype 
      of 46,XY. Polymorphic DNA marker analysis excluded uniparental disomy 18. 
      Interphase FISH analysis on uncultured urinary cells showed 9.4% (3/32 cells) 
      mosaicism for tetrasomy 18p. CONCLUSION: There is cytogenetic discrepancy between 
      amniocytes and cord blood lymphocytes in prenatally detected mosaic tetrasomy 
      18p. Interphase FISH on uncultured amniocytes has the advantage of rapid 
      confirmation of low-level mosaicism for tetrasomy 18p at amniocentesis.
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 - Ko, Tsang-Ming
AU  - Ko TM
FAU - Su, Yi-Ning
AU  - Su YN
FAU - Chern, Schu-Rern
AU  - Chern SR
FAU - Su, Jun-Wei
AU  - Su JW
FAU - Chen, Yu-Ting
AU  - Chen YT
FAU - Town, Dai-Dyi
AU  - Town DD
FAU - Wang, Wayseen
AU  - Wang W
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - China (Republic : 1949- )
TA  - Taiwan J Obstet Gynecol
JT  - Taiwanese journal of obstetrics & gynecology
JID - 101213819
RN  - Chromosome 18, trisomy 18p
SB  - IM
MH  - Adult
MH  - Amniocentesis
MH  - Chromosomes, Human, Pair 18/genetics
MH  - Female
MH  - Fetal Blood
MH  - Humans
MH  - Infant, Newborn
MH  - Karyotyping
MH  - Live Birth/genetics
MH  - Male
MH  - *Mosaicism
MH  - Phenotype
MH  - Pregnancy
MH  - *Prenatal Diagnosis
MH  - Trisomy/*diagnosis/genetics
EDAT- 2013/01/02 06:00
MHDA- 2013/06/26 06:00
CRDT- 2013/01/02 06:00
PHST- 2012/07/02 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)00196-9 [pii]
AID - 10.1016/j.tjog.2012.09.020 [doi]
PST - ppublish
SO  - Taiwan J Obstet Gynecol. 2012 Dec;51(4):625-9. doi: 10.1016/j.tjog.2012.09.020.