15q13.3 microdeletion syndrome

Microdeletions within the 15q13.3 region, typically of ~1,5Mb in size, have recently been shown to lead to mental retardation, seizures and dysmorphism. The region is characterized by increased structural instability, is located relatively close to the region responsible for Prader-Willi/Angelman syndromes and encompasses at least one candidate gene for epilepsy (CHRNA7). The incidence of this syndrome is estimated to be almost equal to that of Prader-Willi/Angelman syndromes.

We perform an MLPA technique, employing multiple probes recognizing specific DNA sequences in the region of interest, enabling us to detect deletions of specific sequences known to be responsible for >99% of all cases.

This technique is superior to FISH, due to its enhanced analytical sensitivity and reliability.