2p16.1 microdeletion syndrome

This newly discovered microdeletion syndrome is caused by deletions with a size of ~4,5Mb, occurring at the 2p15-16.1 chromosomal region. The phenotype includes moderate mental retardation and multiple dysplasias.

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 cases.

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