Molecular karyotyping: a powerful tool for the study of genomic defects in patients with mental retardation Universiteit Gent
Mental retardation or intellectual disability is a complex disorder that affects 2 to 3% of the general population and is one of the main reasons for referral to clinical genetic services. The etiology of mental retardation is highly heterogeneous. Genetic defects, ranging from mutations in single genes to large chromosomal imbalances (> 5 Mb) that are detectable by conventional karyotyping, represent the primary cause. Nevertheless, in the ...