This syndrome is due to submicroscopic genomic copy number changes of DNA sequences ~0,5Mb in size at the 17q21.3 chromosomal region. This chromosomal region is characterized by a particularly complex chromosomal structure and it is possible that one parent may have a particular structural feature predisposing to transmitting this syndrome to his/her progeny. The syndrome is manifested in various different ways, although some common phenotypic traits have been demonstrated, namely low birth weight, infantile hypotonia and moderate mental and growth retardation. It may possibly be proven to be one of the most common genetic syndromes.
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.