Mendelian disorders are most commonly caused by mutations identifiable by DNA sequencing. Exonic deletions and duplications can go undetected by sequencing, and their frequency in most Mendelian ...

Purpose: Array-based comparative genomic hybridization is increasingly being used in patients with learning disability, in addition to existing cytogenetic techniques. This paper reports the results ...

Due to its higher resolution, oligo array CGH has recently made strong inroads in the cytogenetic lab. It’s not surprising. With an increased sensitivity of more than 1,000-fold, microarrays can ...

Early efforts to examine genomic changes in the clinical setting relied on cytogenetic techniques such as chromosome karyotyping, a widely used approach to examine chromosomes and identify changes ...