Molecular karyotyping: Array CGH quality criteria for constitutional genetic diagnosis

被引：121

作者：

Vermeesch, JR

Melotte, C

Froyen, G

Van Vooren, S

Dutta, B

Maas, N

Vermeulen, S

Menten, B

Speleman, F

De Moor, B

Van Hummelen, P

Marynen, P

Fryns, JP

Devriendt, K

机构：

[1] Univ Hosp Gasthuisberg, Ctr Human Genet, B-3000 Louvain, Belgium

[2] Flanders Interuniv, Ctr Human Genet, Inst Biotechnol, Louvain, Belgium

[3] Flanders Interuniv, Dept Human Genet, MicroArray Facil, Inst Biotechnol, Louvain, Belgium

[4] Univ Ghent, Dept Med Genet, B-9000 Ghent, Belgium

[5] Katholieke Univ Leuven, ESAT, SISTA, Louvain, Belgium

来源：

JOURNAL OF HISTOCHEMISTRY & CYTOCHEMISTRY | 2005年 / 53卷 / 03期

关键词：

array CGH; molecular karyotyping; constitutional cytogenetics; prenatal diagnosis; postnatal diagnosis;

D O I：

10.1369/jhc.4A6436.2005

中图分类号：

Q2 [细胞生物学];

学科分类号：

071009 ; 090102 ;

摘要：

Array CGH (comparative genomic hybridization) enables the identification of chromosomal copy number changes. The availability of clone sets covering the human genome opens the possibility for the widespread use of array CGH for both research and diagnostic purposes. In this manuscript we report on the parameters that were critical for successful implementation of the technology, assess quality criteria, and discuss the potential benefits and pitfalls of the technology for improved pre- and postnatal constitutional genetic diagnosis. We propose to name the genome-wide array CGH "molecular karyotyping," in analogy with conventional karyotyping that uses staining methods to visualize chromosomes.

引用

页码：413 / 422

页数：10

共 30 条

[1] Genomic microarrays in human genetic disease and cancer [J].

Albertson, DG ;

Pinkel, D .

HUMAN MOLECULAR GENETICS, 2003, 12 :R145-R152

[2] Quantitative mapping of amplicon structure by array CGH identifies CYP24 as a candidate oncogene [J].

Albertson, DG ;

Ylstra, B ;

Segraves, R ;

Collins, C ;

Dairkee, SH ;

Kowbel, D ;

Kuo, WL ;

Gray, JW ;

Pinkel, D .

NATURE GENETICS, 2000, 25 (02) :144-146

[3] High resolution deletion analysis of constitutional DNA from neurofibromatosis type 2 (NF2) patients using microarray-CGH [J].

Bruder, CEG ;

Hirvelä, C ;

Tapia-Paez, I ;

Fransson, I ;

Segraves, R ;

Hamilton, G ;

Zhang, XX ;

Evans, DG ;

Wallace, AJ ;

Baser, ME ;

Zucman-Rossi, J ;

Hergersberg, M ;

Boltshauser, E ;

Papi, L ;

Rouleau, GA ;

Poptodorov, G ;

Jordanova, A ;

Rask-Andersen, H ;

Kluwe, L ;

Mautner, V ;

Sainio, M ;

Hung, G ;

Mathiesen, T ;

Möller, C ;

Pulst, SM ;

Harder, H ;

Heiberg, A ;

Honda, M ;

Miimura, M ;

Sahlén, S ;

Blennow, E ;

Albertson, DG ;

Pinkel, D ;

Dumanski, JP .

HUMAN MOLECULAR GENETICS, 2001, 10 (03) :271-282

[4] Mapping and sequencing chromosome breakpoints [J].

Carter, NP .

CYTOMETRY, 2002, :43-43

[5] DNA microarrays for comparative genomic hybridization based on DOP-PCR amplification of BAC and PAC clones [J].

Fiegler, H ;

Carr, P ;

Douglas, EJ ;

Burford, DC ;

Hunt, S ;

Smith, J ;

Vetrie, D ;

Gorman, P ;

Tomlinson, IPM ;

Carter, NP .

GENES CHROMOSOMES & CANCER, 2003, 36 (04) :361-374

[6] THE DETECTION OF SUBTELOMERIC CHROMOSOMAL REARRANGEMENTS IN IDIOPATHIC MENTAL-RETARDATION [J].

FLINT, J ;

WILKIE, AOM ;

BUCKLE, VJ ;

WINTER, RM ;

HOLLAND, AJ ;

MCDERMID, HE .

NATURE GENETICS, 1995, 9 (02) :132-140

[7]

Hand JL, 2000, PRENATAL DIAG, V20, P144, DOI 10.1002/(SICI)1097-0223(200002)20:2<144::AID-PD770>3.0.CO

[8]

2-9

[9] Genome scanning with array CGH delineates regional alterations in mouse islet carcinomas [J].

Hodgson G. ;

Hager J.H. ;

Volik S. ;

Hariono S. ;

Wernick M. ;

Moore D. ;

Albertson D.G. ;

Pinkel D. ;

Collins C. ;

Hanahan D. ;

Gray J.W. .

Nature Genetics, 2001, 29 (4) :459-464

[10] A tiling resolution DNA microarray with complete coverage of the human genome [J].

Ishkanian, AS ;

Malloff, CA ;

Watson, SK ;

deLeeuw, RJ ;

Chi, B ;

Coe, BP ;

Snijders, A ;

Albertson, DG ;

Pinkel, D ;

Marra, MA ;

Ling, V ;

MacAulay, C ;

Lam, WL .

NATURE GENETICS, 2004, 36 (03) :299-303

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