Molecular cytometry applied to detection and characterization of disease-linked chromosome aberrations

J. W. Gray; W. L. Kuo; D. Pinkel

doi:10.1016/S0950-3536(09)90007-5

Molecular cytometry applied to detection and characterization of disease-linked chromosome aberrations

J. W. Gray, W. L. Kuo, D. Pinkel

Research output: Contribution to journal › Article › peer-review

11 Scopus citations

Abstract

Flow karyotyping and FISH with chromosome-specific or disease locusspecific probes are powrful adjuncts to conventional cytogenetic analysis. Flow karyotyping is well suited to quantitative analysis of the DNA content changes that occur during structural rearrangement. FISH with probes for repeated sequences allows ready detection of aneuploidy in interphase cells. FISH with whole-chromosome composite probes to metaphase spreads facilitates detection of subtle structural changes and allows detection of structural aberrations that occur at frequencies as low as 10⁻³. FISH with locus-specific probes facilitates diagnosis of specific genetic diseases, may allow phenotype-genotype correlation on a cell by cell basis and will permit sensitive detection of residual disease.

Original language	English (US)
Pages (from-to)	683-693
Number of pages	11
Journal	Bailliere's Clinical Haematology
Volume	4
Issue number	3
DOIs	https://doi.org/10.1016/S0950-3536(09)90007-5
State	Published - 1991
Externally published	Yes

ASJC Scopus subject areas

Hematology

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10.1016/S0950-3536(09)90007-5

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abstract = "Flow karyotyping and FISH with chromosome-specific or disease locusspecific probes are powrful adjuncts to conventional cytogenetic analysis. Flow karyotyping is well suited to quantitative analysis of the DNA content changes that occur during structural rearrangement. FISH with probes for repeated sequences allows ready detection of aneuploidy in interphase cells. FISH with whole-chromosome composite probes to metaphase spreads facilitates detection of subtle structural changes and allows detection of structural aberrations that occur at frequencies as low as 10−3. FISH with locus-specific probes facilitates diagnosis of specific genetic diseases, may allow phenotype-genotype correlation on a cell by cell basis and will permit sensitive detection of residual disease.",

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AU - Kuo, W. L.

AU - Pinkel, D.

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Y1 - 1991

N2 - Flow karyotyping and FISH with chromosome-specific or disease locusspecific probes are powrful adjuncts to conventional cytogenetic analysis. Flow karyotyping is well suited to quantitative analysis of the DNA content changes that occur during structural rearrangement. FISH with probes for repeated sequences allows ready detection of aneuploidy in interphase cells. FISH with whole-chromosome composite probes to metaphase spreads facilitates detection of subtle structural changes and allows detection of structural aberrations that occur at frequencies as low as 10−3. FISH with locus-specific probes facilitates diagnosis of specific genetic diseases, may allow phenotype-genotype correlation on a cell by cell basis and will permit sensitive detection of residual disease.

AB - Flow karyotyping and FISH with chromosome-specific or disease locusspecific probes are powrful adjuncts to conventional cytogenetic analysis. Flow karyotyping is well suited to quantitative analysis of the DNA content changes that occur during structural rearrangement. FISH with probes for repeated sequences allows ready detection of aneuploidy in interphase cells. FISH with whole-chromosome composite probes to metaphase spreads facilitates detection of subtle structural changes and allows detection of structural aberrations that occur at frequencies as low as 10−3. FISH with locus-specific probes facilitates diagnosis of specific genetic diseases, may allow phenotype-genotype correlation on a cell by cell basis and will permit sensitive detection of residual disease.

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Molecular cytometry applied to detection and characterization of disease-linked chromosome aberrations

Abstract

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