Comparative genomic hybridization (CGH) is a technique that has greatly facilitated detection of gains and losses in DNA copy number, and has been of particular utility in elucidating the pattern of ...

Array-based comparative genomic hybridization (CGH) measures copy-number variations at multiple loci simultaneously, providing an important tool for studying cancer and developmental disorders and for ...

Deletions and amplifications of the human genomic sequence (copy number polymorphisms) are the cause of numerous diseases and a potential cause of phenotypic variation in the normal population.

Background: Karyotype analysis has been the standard method for prenatal cytogenetic diagnosis since the 1970s. Although highly reliable, the major limitation remains the requirement for cell culture, ...

In our laboratory, we have used HR-CGH as a screening method for cryptic chromosomal imbalances for several years. In an initial study, we found a cryptic chromosomal imbalance in 5 out of 50 patients ...

Assessing variations in DNA copy number is crucial for understanding constitutional or somatic diseases, particularly cancers. The recently developed array-CGH (comparative genomic hybridization) ...

1 Laboratory of Cytochemistry and Cytometry, Department of Molecular Cell Biology, Leiden University Medical Centre, Leiden, Netherlands 2 Department of Human and Clinical Genetics, Leiden University ...

Copy number variation (CNV) detection has become an integral part many of genetic studies and new technologies promise to revolutionize our ability to detect and link them to disease. However, recent ...

Molecular characterization of collagen-VI related myopathies currently relies on standard sequencing, which yields a detection rate approximating 75-79% in Ullrich congenital muscular dystrophy (UCMD) ...

In about 50% of first trimester spontaneous abortion the cause remains undetermined after standard cytogenetic investigation. We evaluated the usefulness of array-CGH in diagnosing chromosome ...

In addition to the surprising revelation that our chromosomes harbor fewer genes than originally predicted, the Human Genome Project also unveiled that all individuals share approximately 99.9% of ...