Monosomy of the subtelomeric region 1p36 is the most common microdeletion syndrome. Apart of terminal deletions, interstitial deletions occur as well (10% of cases), along with derivative chromosomes, whereas complex rearrangements of 1p36 have also been reported. Affected infants exhibit a variety of dysmorphic features, developmental delay and severe mental retardation. It has an estimated incidence of ~1/5000 births.
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.