Miller-Dieker syndrome is caused by gene deletions at the 17p13.3 chromosomal region. It is characterized by typical lissencephaly, which includes microcephaly and a thick cerebral cortex of 4 instead of 6 layers. The incidence of this syndrome is ~1/50.000 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 all cases.
This technique is superior to FISH, due to its enhanced analytical sensitivity and reliability.