Molecular Karyotyping: Array CGH Quality Criteria for Constitutional Genetic Diagnosis
Open Access
- 1 March 2005
- journal article
- Published by SAGE Publications in Journal of Histochemistry & Cytochemistry
- Vol. 53 (3) , 413-422
- https://doi.org/10.1369/jhc.4a6436.2005
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.Keywords
This publication has 27 references indexed in Scilit:
- Mild Wolf-Hirschhorn syndrome: micro-array CGH analysis of atypical 4p16.3 deletions enables refinement of the genotype-phenotype mapJournal of Medical Genetics, 2004
- Microarray based comparative genomic hybridisation (array-CGH) detects submicroscopic chromosomal deletions and duplications in patients with learning disability/mental retardation and dysmorphic featuresJournal of Medical Genetics, 2004
- The performance of CGH array for the detection of cryptic constitutional chromosome imbalancesJournal of Medical Genetics, 2004
- Array-Based Comparative Genomic Hybridization for the Genomewide Detection of Submicroscopic Chromosomal AbnormalitiesAmerican Journal of Human Genetics, 2003
- Small supernumerary marker chromosomes (SMCs): genotype-phenotype correlation and classificationHuman Genetics, 2003
- Genomic microarrays in human genetic disease and cancerHuman Molecular Genetics, 2003
- Comparative analysis of comparative genomic hybridization microarray technologies: Report of a workshop sponsored by the Wellcome TrustCytometry, 2002
- Submicroscopic terminal deletions and duplications in retarded patients with unclassified malformation syndromesHuman Genetics, 2001
- Scanning for telomeric deletions and duplications and uniparental disomy using genetic markers in 120 children with malformationsHuman Genetics, 2001
- The detection of subtelomeric chromosomal rearrangements in idiopathic mental retardationNature Genetics, 1995