Chromosomal copy-number variations (CNVs) are a class of genetic variants highly implicated in the aetiology of neurodevelopmental disorders, including intellectual disabilities (ID), schizophrenia ...

Microarray based comparative genomic hybridisation (array CGH) is a new technology with uses developing in various diagnostic areas within the NHS. One important context is the investigation of ...

Anomalies detected with ultrasound in fetuses with normal karyotypes may be associated with unusual copy number variants (CNVs), a secondary analysis shows. Jennifer C. Donnelly, MD, from the ...

Advancements in technologies have revolutionized the genetic landscape. Chromosomal microarray analysis (CMA) becomes a proven method and is implemented to detect gains and losses of DNA and absence ...