16p11.2 microdeletion syndrome

Microdeletions within the 16p11.2-12.1 chromosomal region, with a size of 7,1-8,7Mb, were recently detected in patients with dysmorphic features, mental retardation and developmental defects. Prevalence of this newly defined syndrome has yet to be determined, although due to the increased instability characterizing this specific region, it is estimated that it most probably is a frequently recurring syndrome in patients whose symptoms meet the description given above.

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.