PMID- 12210569
OWN - NLM
STAT- MEDLINE
DCOM- 20030213
LR  - 20131121
IS  - 0197-3851 (Print)
IS  - 0197-3851 (Linking)
VI  - 22
IP  - 8
DP  - 2002 Aug
TI  - Prenatal detection of structural abnormalities of chromosome 18: associations 
      with interphase fluorescence in situ hybridization (FISH) and maternal serum 
      screening.
PG  - 645-8
AB  - We describe two cases of prenatally ascertained isochromosome 18. Case 1 included 
      both an isochromosome 18p and an isochromosome 18q, while Case 2 involved only an 
      isochromosome 18q. Both of these cases were associated with a positive maternal 
      serum triple screen trisomy 18 risk (greater than 1 in 100 risk). In addition, 
      fluorescence in situ hybridization (FISH) was performed on uncultured amniotic 
      fluid interphase cells in both cases looking for aneuploidy for chromosomes 13, 
      18, 21, X and Y. The results of the interphase analyses support the common 
      knowledge that careful interpretation of interphase FISH analysis is necessary 
      and that results should be followed by full cytogenetic analysis. To our 
      knowledge these are the first reported cases of structurally abnormal chromosomes 
      18 being associated with a positive maternal serum triple screen for trisomy 18.
CI  - Copyright 2002 John Wiley & Sons, Ltd.
FAU - Graf, Michael D
AU  - Graf MD
AD  - Department of Genetics and Center for Human Genetics Laboratory, Case Western 
      Reserve University and University Hospitals of Cleveland, Cleveland, OH 44106, 
      USA. michael.graf@uhhs.com
FAU - Gill, Prabhcharan
AU  - Gill P
FAU - Krew, Michael
AU  - Krew M
FAU - Schwartz, Stuart
AU  - Schwartz S
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - England
TA  - Prenat Diagn
JT  - Prenatal diagnosis
JID - 8106540
RN  - 0 (Chorionic Gonadotropin)
RN  - 0 (alpha-Fetoproteins)
RN  - FB33469R8E (Estriol)
SB  - IM
MH  - Adult
MH  - Amniocentesis
MH  - Amniotic Fluid/chemistry/cytology
MH  - Chorionic Gonadotropin/blood
MH  - *Chromosome Aberrations
MH  - *Chromosomes, Human, Pair 18
MH  - Estriol/blood
MH  - Female
MH  - Gestational Age
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Interphase
MH  - Isochromosomes
MH  - Male
MH  - *Prenatal Diagnosis
MH  - Trisomy
MH  - alpha-Fetoproteins/analysis
EDAT- 2002/09/05 10:00
MHDA- 2003/02/14 04:00
CRDT- 2002/09/05 10:00
PHST- 2002/09/05 10:00 [pubmed]
PHST- 2003/02/14 04:00 [medline]
PHST- 2002/09/05 10:00 [entrez]
AID - 10.1002/pd.354 [doi]
PST - ppublish
SO  - Prenat Diagn. 2002 Aug;22(8):645-8. doi: 10.1002/pd.354.