This syndrome is caused by a microdeletion of 1,7-3,9Mb in size, at 15q24. Regardless of the difference in the actual size of each deletion, patients exhibit several common features, namely mental and growth retardation as well as microcephaly.
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.