PMID- 12017232
OWN - NLM
STAT- MEDLINE
DCOM- 20021129
LR  - 20060706
IS  - 1015-8146 (Print)
IS  - 1015-8146 (Linking)
VI  - 13
IP  - 1
DP  - 2002
TI  - Reliability and efficiency of interphase-fish with alpha-satellite probe for 
      detection of aneuploidy.
PG  - 11-7
AB  - Early diagnosis is very important in pre- and postnatal diagnosis of Down 
      syndrome. This study examines the use of fluorescence in situ hybridization 
      (FISH) to detect trisomy 21 in interphase nuclei and metaphase chromosome 
      obtained from fifty-four Down syndrome patients with a regular type trisomy 21. 
      Three of them showed six hybridization signals on both interphase nuclei and 
      metaphase spreads instead of five signals corresponding to two chromosomes 13 and 
      three chromosomes 21 although they were cytogenetically trisomy 21. Simultaneous 
      application of probe combination revealed that one of the extra signals of 
      chromosomes 13/21 a-satellite probe was located on chromosome 22 in two cases and 
      one extra signal on chromosomes 15 in one case. In addition, another case showed 
      four hybridization signals on both interphase nuclei and metaphase spreads 
      instead of five signals, indicating deletion of the chromosome specific 
      alpha-satellite DNA sequence of chromosome 13/21. These centromeric sequence 
      changes may have pathological significance in the appearance of aneuploidy 
      because they may be involved in the important centromere function.
FAU - Acar, H
AU  - Acar H
AD  - Department of Medical Genetics and Biology, Selcuk University, Medical Faculty, 
      Konya, Turkey. yaseminsena@hotmail.com
FAU - Yildirim, M S
AU  - Yildirim MS
FAU - Kaynak, M
AU  - Kaynak M
LA  - eng
PT  - Journal Article
PL  - Switzerland
TA  - Genet Couns
JT  - Genetic counseling (Geneva, Switzerland)
JID - 9015261
RN  - 0 (DNA Probes)
RN  - 0 (DNA, Satellite)
SB  - IM
MH  - Case-Control Studies
MH  - Child, Preschool
MH  - DNA Probes
MH  - DNA, Satellite
MH  - Down Syndrome/*diagnosis
MH  - Female
MH  - Humans
MH  - In Situ Hybridization, Fluorescence/*methods
MH  - Infant
MH  - Interphase
MH  - Male
MH  - Metaphase
MH  - Reproducibility of Results
EDAT- 2002/05/23 10:00
MHDA- 2002/11/30 04:00
CRDT- 2002/05/23 10:00
PHST- 2002/05/23 10:00 [pubmed]
PHST- 2002/11/30 04:00 [medline]
PHST- 2002/05/23 10:00 [entrez]
PST - ppublish
SO  - Genet Couns. 2002;13(1):11-7.