Detection of diagnostically critical, often hidden, anomalies in complex karyotypes of haematological disorders using multicolour fluorescence in situ hybridization

被引：19

作者：

Jalal, SM

Law, ME

Stamberg, J

Fonseca, R

Seely, JR

Myers, WH

Hanson, CA

机构：

[1] Mayo Clin & Mayo Fdn, Genet Lab, Rochester, MN 55905 USA

[2] Mayo Clin & Mayo Fdn, Dept Lab Med & Pathol, Sect Hematol, Rochester, MN 55905 USA

[3] Univ Maryland, Dept Pathol, Cytogenet Lab, Baltimore, MD 21201 USA

[4] Univ Oklahoma, Chapmin Inst Med Genet, Oklahoma City, OK USA

[5] Univ Oklahoma, Sect Paediat Hematol Oncol, Oklahoma City, OK USA

来源：

BRITISH JOURNAL OF HAEMATOLOGY | 2001年 / 112卷 / 04期

关键词：

M-FISH; complex karyotype; critical rearrangement; haematological;

D O I：

10.1046/j.1365-2141.2001.02630.x

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Multicolour fluorescence in situ hybridization (M-FISH) simultaneously detects all 24 human chromosomes in unique fluorescent colours. The identification of diagnostically critical gene rearrangement(s) in complex karyotypes of haematological disorders continues to be a challenge. We present five cases in which t(9:11), complex t(8:22), t(12;21) and t(11;14) were detected primarily using M-FISH and were confirmed using locus-specific probes. conclude that M-FISH can be effective in complete characterization of critical gene rearrangements in haematological disorders.

引用

页码：975 / 980

页数：6

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