Application of multicolor fluorescent in situ hybridization for enhanced characterization of chromosomal abnormalities in congenital disorders.
OBJECTIVE
To determine the efficacy of multicolor fluorescent in situ hybridization (M-FISH), which paints each chromosome in a unique color, for identification of congenital derivative and marker chromosomes. MATERIAL, METHODS AND CASES: Commercially available M-FISH probes were used to label each chromosome in a specific fluorescent color. Six representative cases involving derivative chromosomes, markers, and subtle anomalies were analyzed by M-FISH.


RESULTS
Three familial, rather subtle derivative chromosomes were identified by M-FISH with relative ease. A small ring that was unidentifiable by banded-chromosome analysis was identified by M-FISH. A case of a subtle telomeric anomaly could not be resolved without the use of telomeric-specific probes. The M-FISH results were confirmed by individual chromosome-specific painting probes.


CONCLUSIONS
M-FISH was helpful for identifying a wide range of congenital chromosomal anomalies. However, for subtle chromosomal abnormalities, use of locus-specific probes may be necessary.
Jalal
S M
SM
Division of Laboratory Genetics, Mayo Clinic, 200 First St SW, Rochester, MN 55905, USA. sjalal@mayo.edu
Law
M E
ME
Lindor
N M
NM
Thompson
K J
KJ
Sekhon
G S
GS
D000328:Adult; D002648:Child; D002869:Chromosome Aberrations / Q000175:diagnosis*; D025063:Chromosome Disorders; D020223:Chromosome Painting / Q000379:methods*; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D009154:Mutation / Q000235:genetics; D015341:Nucleic Acid Probes; D016615:Telomere / Q000648:ultrastructure
D015341:Nucleic Acid Probes