9q22.3 microdeletion syndrome

This newly recognized microdeletion syndrome is caused a deletion of ~6,5Mb at the 9q22.3 chromosomal region containing more than 50 genes. A typical characteristic of this syndrome is hypertrophy, usually accompanied by psychomotor delay, distinctive facial appearance and premature bone aging.

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.