22q13 microdeletion – Phelan-McDermid syndrome

This particular syndrome is caused by microdeletions of a region ranging in size from 4,0 to 9,0Mb, located at the 22q13 chromosomal region. Depending on the extent of the deletion, it may rarely be detectable by high resolution karyotype analysis. Typical characteristics of the syndrome include neonatal hypotonia, severe developmental delay and absent lingual abilities.

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.