Application of multicolor fluorescent in situ hybridization for enhanced characterization of chromosomal abnormalities in congenital disorders

Syed M. Jalal, Mark E. Law, Noralane M. Lindor, Kate J. Thompson, Gurbax S. Sekhon

Research output: Contribution to journalArticle

8 Scopus citations

Abstract

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 bandedchromosome 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. Conclusion: 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.

Original languageEnglish (US)
Pages (from-to)16-21
Number of pages6
JournalMayo Clinic proceedings
Volume76
Issue number1
DOIs
StatePublished - Jan 1 2001

ASJC Scopus subject areas

  • Medicine(all)

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