Advances in the detection of chromosomal aberrations using spectral karyotyping

被引：35

作者：

Bayani, J

Squire, JA

机构：

[1] Ontario Canc Inst, Div Cellular & Mol Biol, Univ Hlth Network, Toronto, ON M5G 2M9, Canada

[2] Univ Toronto, Dept Med Biophys, Toronto, ON, Canada

[3] Univ Toronto, Dept Lab Med & Pathobiol, Toronto, ON, Canada

来源：

CLINICAL GENETICS | 2001年 / 59卷 / 02期

关键词：

cancer cytogenetics; clinical cytogenetics; FISH; translocation;

D O I：

10.1034/j.1399-0004.2001.590201.x

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Spectral karyotyping (SKY) is a powerful 24-color, whole chromosome-painting assay allowing the visualization of each chromosome in one experiment. Subtle karyotype rearrangements can be detected easily so that small translocations lead to a transition from one color to another at the chromosomal breakpoint region. SKY has enabled the elucidation of several examples of hidden or 'cryptic' structural aberrations that may otherwise have been left undetected by classical cytogenetic methods. Furthermore, the chromosomal origins of abnormalities once designated 'marker chromosomes' can now be determined rather than left unidentified. SKY analysis of cancer cytogenetics samples provides a much more detailed description of the highly abnormal karyotypes that characterize advanced tumors and cancer eel lines. In addition, SKY significantly adds to the power of clinical cytogenetic analysis of constitutional chromosomal aberrations by facilitating the identification of subtle structural rearrangements that may contain aneuploidy with potential pathological consequences.

引用

页码：65 / 73

页数：9

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