Molecular karyotyping: array CGH quality criteria for constitutional genetic diagnosis.
J Histochem Cytochem
; 53(3): 413-22, 2005 Mar.
Article
em En
| MEDLINE
| ID: mdl-15750031
ABSTRACT
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.
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Base de dados:
MEDLINE
Assunto principal:
Aberrações Cromossômicas
/
Análise de Sequência com Séries de Oligonucleotídeos
/
Cariotipagem
/
Hibridização de Ácido Nucleico
Tipo de estudo:
Diagnostic_studies
/
Prognostic_studies
Limite:
Humans
Idioma:
En
Ano de publicação:
2005
Tipo de documento:
Article