PMID- 9860306
OWN - NLM
STAT- MEDLINE
DCOM- 19990112
LR  - 20190722
IS  - 0340-6717 (Print)
IS  - 0340-6717 (Linking)
VI  - 103
IP  - 5
DP  - 1998 Nov
TI  - Identification of de novo chromosomal markers and derivatives by spectral 
      karyotyping.
PG  - 619-25
AB  - Despite major advances in molecular cytogenetics during the past decade and the 
      important diagnostic role that fluorescence in situ hybridization (FISH) plays in 
      the characterization of chromosomal abnormalities, the usefulness of this 
      technique remains limited by the number of spectrally distinguishable 
      fluorochromes or fluorochrome combinations. Overcoming this major limitation 
      would allow one to use FISH to screen the whole human genome for chromosomal 
      aberrations which, until recently, was possible only through conventional 
      karyotyping. A recently described molecular cytogenetics technology, 24-color 
      FISH using spectral karyotyping (SKY), permits the simultaneous visualization of 
      all human chromosomes in 24 different colors. Most chromosomal aberrations 
      detected during cytogenetic evaluation can be resolved using routine cytogenetic 
      techniques alone or in combination with single- or dual-color FISH. However, some 
      cases remain unresolved, in particular de novo supernumerary marker chromosomes 
      and de novo unbalanced structural rearrangements. These findings cause particular 
      diagnostic and counseling concerns when detected during prenatal diagnosis. The 
      purpose of this report is to demonstrate the application of SKY in the 
      characterization of these de novo structural chromosomal abnormalities. Eight 
      cases are described in this report. SKY has considerable diagnostic applications 
      in prenatal diagnosis because of its reliability and speed. The identification of 
      the chromosomal origin of markers and unbalanced translocations provides the 
      patient, physician, and genetic counselor with better predictive information on 
      the phenotype of the carrier.
FAU - Haddad, B R
AU  - Haddad BR
AD  - Institute for Molecular and Human Genetics and Department of Obstetrics and 
      Gynecology, Georgetown University Medical Center, Washington, DC 20007, USA. 
      haddadb1@gunet.georgetown.edu
FAU - Schrock, E
AU  - Schrock E
FAU - Meck, J
AU  - Meck J
FAU - Cowan, J
AU  - Cowan J
FAU - Young, H
AU  - Young H
FAU - Ferguson-Smith, M A
AU  - Ferguson-Smith MA
FAU - du Manoir, S
AU  - du Manoir S
FAU - Ried, T
AU  - Ried T
LA  - eng
PT  - Journal Article
PL  - Germany
TA  - Hum Genet
JT  - Human genetics
JID - 7613873
RN  - 0 (DNA Probes)
RN  - 0 (Fluorescent Dyes)
RN  - 0 (Genetic Markers)
RN  - 0 (Indoles)
RN  - 47165-04-8 (DAPI)
SB  - IM
MH  - Amniotic Fluid/cytology
MH  - Chromosome Aberrations/*genetics
MH  - Chromosome Banding
MH  - Chromosome Disorders
MH  - Chromosomes/genetics
MH  - DNA Probes/genetics
MH  - Fluorescent Dyes/metabolism
MH  - Genetic Markers/*genetics
MH  - Humans
MH  - In Situ Hybridization, Fluorescence/methods
MH  - Indoles/metabolism
MH  - Karyotyping/*methods
MH  - Lymphocytes/cytology
MH  - Prenatal Diagnosis/methods
EDAT- 1998/12/22 00:00
MHDA- 1998/12/22 00:01
CRDT- 1998/12/22 00:00
PHST- 1998/12/22 00:00 [pubmed]
PHST- 1998/12/22 00:01 [medline]
PHST- 1998/12/22 00:00 [entrez]
AID - 10.1007/s004390050878 [doi]
PST - ppublish
SO  - Hum Genet. 1998 Nov;103(5):619-25. doi: 10.1007/s004390050878.