PMID- 9090389
OWN - NLM
STAT- MEDLINE
DCOM- 19970425
LR  - 20071114
IS  - 1061-4036 (Print)
IS  - 1061-4036 (Linking)
VI  - 15
IP  - 4
DP  - 1997 Apr
TI  - Hidden chromosome abnormalities in haematological malignancies detected by 
      multicolour spectral karyotyping.
PG  - 406-10
AB  - Cytogenetic analysis provides critical information of diagnostic and prognostic 
      importance for haematological malignancies. In fact, the identification of 
      recurring chromosomal breakpoints in leukaemias and lymphomas has expedited the 
      cloning of genes whose translocation-induced deregulation causes malignant 
      transformation. The pillar of karyotype analysis rests on chromosome banding 
      techniques that have the distinct advantage that the entire genome can be 
      analysed in a single experiment. However, poorly spread or contracted metaphase 
      chromosomes and highly rearranged karyotypes with numerous marker chromosomes, 
      common in tumour cell preparations, are often difficult to interpret 
      unambiguously and subtle chromosomal aberrations, in particular the exchange of 
      telomeric chromatin or small insertions remain elusive. Fluorescence in situ 
      hybridization (FISH) overcomes some of these limitations, but is mainly utilized 
      to confirm the presence of previously characterized or suspected aberrations. We 
      have developed a novel approach, termed spectral karyotyping or SKY based on the 
      hybridization of 24 fluorescently labelled chromosome painting probes that allows 
      the simultaneous and differential colour display of all human chromosomes. We 
      have used SKY to complement conventional banding techniques in haematological 
      malignancies by analysing 15 cases with unidentified chromosome aberrations. In 
      all instances SKY provided additional cytogenetic information, including the 
      identification of marker chromosomes, the detection of subtle chromosomal 
      translocations and the clarification of complex chromosomal rearrangements. Thus, 
      SKY in combination with standard chromosome banding allows the characterization 
      of chromosomal aberrations in leukaemia with unprecedented accuracy.
FAU - Veldman, T
AU  - Veldman T
AD  - National Human Genome Research Institute, National Institutes of Health, 
      Bethesda, Maryland 20892-4470, USA.
FAU - Vignon, C
AU  - Vignon C
FAU - Schrock, E
AU  - Schrock E
FAU - Rowley, J D
AU  - Rowley JD
FAU - Ried, T
AU  - Ried T
LA  - eng
GR  - 9512-8/PHS HHS/United States
GR  - CA42557/CA/NCI NIH HHS/United States
PT  - Comparative Study
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PT  - Research Support, U.S. Gov't, Non-P.H.S.
PT  - Research Support, U.S. Gov't, P.H.S.
PL  - United States
TA  - Nat Genet
JT  - Nature genetics
JID - 9216904
SB  - IM
MH  - Adult
MH  - Aged
MH  - Child, Preschool
MH  - Chromosome Aberrations/diagnosis/*genetics
MH  - Chromosome Banding
MH  - Chromosome Disorders
MH  - Female
MH  - Humans
MH  - In Situ Hybridization, Fluorescence/*methods
MH  - Karyotyping/*methods
MH  - Leukemia/*genetics
MH  - Lymphoma/*genetics
MH  - Male
MH  - Middle Aged
EDAT- 1997/04/01 00:00
MHDA- 1997/04/01 00:01
CRDT- 1997/04/01 00:00
PHST- 1997/04/01 00:00 [pubmed]
PHST- 1997/04/01 00:01 [medline]
PHST- 1997/04/01 00:00 [entrez]
AID - 10.1038/ng0497-406 [doi]
PST - ppublish
SO  - Nat Genet. 1997 Apr;15(4):406-10. doi: 10.1038/ng0497-406.