High resolution comparative genomic hybridisation analysis reveals imbalances in dyschromosomal patients with normal or apparently balanced conventional karyotypes

被引：40

作者：

Kirchhoff, M

Rose, H

Maahr, J

Gerdes, T

Bugge, M

Tommerup, N

Tümer, Z

Lespinasse, J

Jensen, PKA

Wirth, J

Lundsteen, C

机构：

[1] Natl Univ Hosp Copenhagen, Julian Marie Ctr, Dept Clin Genet, Cytogenet Lab, Copenhagen, Denmark

[2] Univ Copenhagen, Panum Inst, Inst Med Biochem & Genet, Dept Med Genet, DK-2200 Copenhagen, Denmark

[3] Cent Hosp, Cytogenet Lab, Chambery, France

[4] Arhus Kommunehosp, Dept Clin Genet, Aarhus, Denmark

[5] Max Planck Inst Mol Genet, Berlin, Germany

来源：

EUROPEAN JOURNAL OF HUMAN GENETICS | 2000年 / 8卷 / 09期

关键词：

comparative genomic hybridisation; chromosome analysis; chromosome aberrations; dyschromosomal;

D O I：

10.1038/sj.ejhg.5200512

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

A sensitive technique is needed for screening whole genome imbalances in dyschromosomal patients when C-banding shows normal karyotypes or apparently balanced translocations. In this study we performed highly sensitive comparative genomic hybridisation analysis on a number of such cases and revealed chromosomal imbalances in all.

引用

页码：661 / 668

页数：8

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