Clinical and genetic aspects of the 15q11.2 BP1–BP2 microdeletion disorder

Background The 15q11.2 BP1–BP2 microdeletion (Burnside–Butler susceptibility locus) is an emerging condition with over 200 individuals reported in the literature. TUBGCP5 , CFYIP1 , NIPA1 and NIPA2 genes are located in this chromosome 15 region and when disturbed individually are known to cause neurological, cognitive or behavioural problems as well as playing a role in both Prader–Willi and Angelman syndromes. These syndromes were the first...