The most common cause for Smith-Magenis syndrome (>90%) is a microdeletion at the 17p11.2 chromosomal region. Phenotype of patients with SMS typically includes brachycephaly, hypoplasia of the centre of the face, prognathism, psychomotor abnormalities, developmental delay and behavioral problems. Most patients exhibit moderate mental retardation, with IQ test scores of 40-45. Prevalence of this syndrome is estimated to be 1/15.000 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.