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

M Kirchhoff; H Rose; J Maahr; T Gerdes; M Bugge; N Tommerup; Z Tümer; J Lespinasse; P K Jensen; J Wirth; C Lundsteen

doi:10.1038/sj.ejhg.5200512

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

M Kirchhoff, H Rose, J Maahr, T Gerdes, M Bugge, N Tommerup, Z Tümer, J Lespinasse, P K Jensen, J Wirth, C Lundsteen

48 Citations (Scopus)

Abstract

A sensitive technique is needed for screening whole genome imbalances in dyschromosomal patients when G-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.

Original language	English
Journal	European journal of human genetics : EJHG
Volume	8
Issue number	9
Pages (from-to)	661-8
Number of pages	8
ISSN	1018-4813
DOIs	https://doi.org/10.1038/sj.ejhg.5200512
Publication status	Published - Sept 2000
Externally published	Yes

Keywords

Chromosome Aberrations/genetics
Chromosome Banding
Chromosome Disorders
Congenital Abnormalities/genetics
DNA/analysis
DNA Probes/genetics
Female
Fetus
Fluorescent Dyes/metabolism
Genetic Testing
Humans
In Situ Hybridization, Fluorescence
Intellectual Disability/genetics
Karyotyping
Male
Nucleic Acid Hybridization/methods

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10.1038/sj.ejhg.5200512

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Kirchhoff, M., Rose, H., Maahr, J., Gerdes, T., Bugge, M., Tommerup, N., Tümer, Z., Lespinasse, J., Jensen, P. K., Wirth, J., & Lundsteen, C. (2000). High resolution comparative genomic hybridisation analysis reveals imbalances in dyschromosomal patients with normal or apparently balanced conventional karyotypes. European journal of human genetics : EJHG, 8(9), 661-8. https://doi.org/10.1038/sj.ejhg.5200512

High resolution comparative genomic hybridisation analysis reveals imbalances in dyschromosomal patients with normal or apparently balanced conventional karyotypes. / Kirchhoff, M; Rose, H; Maahr, J et al.
In: European journal of human genetics : EJHG, Vol. 8, No. 9, 09.2000, p. 661-8.

Research output: Contribution to journal › Journal article › Research › peer-review

Kirchhoff, M, Rose, H, Maahr, J, Gerdes, T, Bugge, M, Tommerup, N, Tümer, Z, Lespinasse, J, Jensen, PK, Wirth, J & Lundsteen, C 2000, 'High resolution comparative genomic hybridisation analysis reveals imbalances in dyschromosomal patients with normal or apparently balanced conventional karyotypes', European journal of human genetics : EJHG, vol. 8, no. 9, pp. 661-8. https://doi.org/10.1038/sj.ejhg.5200512

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abstract = "A sensitive technique is needed for screening whole genome imbalances in dyschromosomal patients when G-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.",

keywords = "Chromosome Aberrations/genetics, Chromosome Banding, Chromosome Disorders, Congenital Abnormalities/genetics, DNA/analysis, DNA Probes/genetics, Female, Fetus, Fluorescent Dyes/metabolism, Genetic Testing, Humans, In Situ Hybridization, Fluorescence, Intellectual Disability/genetics, Karyotyping, Male, Nucleic Acid Hybridization/methods",

author = "M Kirchhoff and H Rose and J Maahr and T Gerdes and M Bugge and N Tommerup and Z T{\"u}mer and J Lespinasse and Jensen, \{P K\} and J Wirth and C Lundsteen",

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AU - Kirchhoff, M

AU - Rose, H

AU - Maahr, J

AU - Gerdes, T

AU - Bugge, M

AU - Tommerup, N

AU - Tümer, Z

AU - Lespinasse, J

AU - Jensen, P K

AU - Wirth, J

AU - Lundsteen, C

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AB - A sensitive technique is needed for screening whole genome imbalances in dyschromosomal patients when G-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.

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KW - Chromosome Banding

KW - Chromosome Disorders

KW - Congenital Abnormalities/genetics

KW - DNA/analysis

KW - DNA Probes/genetics

KW - Female

KW - Fetus

KW - Fluorescent Dyes/metabolism

KW - Genetic Testing

KW - Humans

KW - In Situ Hybridization, Fluorescence

KW - Intellectual Disability/genetics

KW - Karyotyping

KW - Male

KW - Nucleic Acid Hybridization/methods

UR - https://www.scopus.com/pages/publications/0033822498

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DO - 10.1038/sj.ejhg.5200512

M3 - Journal article

C2 - 10980571

SN - 1018-4813

VL - 8

SP - 661

EP - 668

JO - European journal of human genetics : EJHG

JF - European journal of human genetics : EJHG

IS - 9

ER -

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

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