PMID- 12820695
OWN - NLM
STAT- MEDLINE
DCOM- 20031125
LR  - 20061115
IS  - 1090-6576 (Print)
IS  - 1090-6576 (Linking)
VI  - 7
IP  - 1
DP  - 2003 Spring
TI  - Prenatal diagnosis of tetrasomy 18p using multiplex fluorescent PCR and 
      comparison with a variety of techniques.
PG  - 1-6
AB  - We report genetic characterization of isochromosome 18p using a combination of 
      cytogenetic and molecular genetic methods, including multiplex fluorescent PCR. 
      The patient was referred for chorionic villus sampling (CVS) due to advanced 
      maternal age and maternal anxiety. The placental karyotype was 47,XX,+mar, with 
      the marker having the appearance of a small supernumerary isochromosome. Because 
      differentiating between isochromosomes and other structural rearrangements is 
      normally very difficult, a variety of genetic tests including fluorescence in 
      situ hybridization (FISH), PCR, and multiplex fluorescent PCR were undertaken to 
      determine chromosomal origin and copy number and, thus, allow accurate diagnosis 
      of the corresponding syndrome. FISH determined that the marker chromosome 
      contained chromosome 18 material. PCR of a variety of short tandem repeats (STRs) 
      confirmed that there was at least one extra copy of the maternal 18p material. 
      However, neither FISH nor PCR could accurately determine copy number. Multiplex 
      fluorescent PCR (MF-PCR) of STRs simultaneously determined that: (1) the marker 
      included 18p material; (2) the marker was maternal in origin; (3) allele copy 
      number indicated tetrasomy; and (4) contamination of the sample could be ruled 
      out. Results were also rapid with accurate diagnosis of the syndrome tetrasomy 
      18p possible within 5 hours.
FAU - Irwin, D L
AU  - Irwin DL
AD  - Australian Genome Research Facility, University of Queensland, Brisbane, 
      Australia.
FAU - Bryan, J L
AU  - Bryan JL
FAU - Chan, F Y
AU  - Chan FY
FAU - Matthews, P L
AU  - Matthews PL
FAU - Healey, S C
AU  - Healey SC
FAU - Peters, M
AU  - Peters M
FAU - Findlay, I
AU  - Findlay I
LA  - eng
PT  - Comparative Study
PT  - Journal Article
PL  - United States
TA  - Genet Test
JT  - Genetic testing
JID - 9802546
SB  - IM
MH  - Adult
MH  - *Aneuploidy
MH  - Chorionic Villi Sampling
MH  - Chromosomes, Human, Pair 18/*genetics
MH  - Female
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Isochromosomes/*genetics
MH  - Karyotyping
MH  - Polymerase Chain Reaction/*methods
MH  - Pregnancy
MH  - Prenatal Diagnosis/*methods
EDAT- 2003/06/25 05:00
MHDA- 2003/12/03 05:00
CRDT- 2003/06/25 05:00
PHST- 2003/06/25 05:00 [pubmed]
PHST- 2003/12/03 05:00 [medline]
PHST- 2003/06/25 05:00 [entrez]
AID - 10.1089/109065703321560868 [doi]
PST - ppublish
SO  - Genet Test. 2003 Spring;7(1):1-6. doi: 10.1089/109065703321560868.