Purpose: The advent of molecular cytogenetic technologies has altered the means by which new microdeletion syndromes are identified. Whereas the cytogenetic basis of microdeletion syndromes has ...
The Scottish Parliament committee is concerned that people are waiting years for neurodevelopmental assessments.
Copy number variants (CNVs) arise by homologous recombination (HR) between repeated sequences (recurrent CNVs) or by non-homologous recombination mechanisms that occur throughout the genome ...