3q29 microdeletion syndrome

This recently described microdeletion syndrome is caused by a relatively small microdeletion of ~1.5Mb occurring at the 3q29 chromosomal region. It exhibits a mild to moderate mental retardation, with possible autistic behavior, multiple dysplasias and locomotor ataxia. The severity and manifestation of symptoms may differ for each patient.

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.