Wolf-Hirschhorn syndrome

Wolf-Hirschhorn syndrome is caused by partial deletion of the 4p chromosome region and is characterized by severe developmental delay, mental defects, microcephaly and the typical “greek helmet” head. It occurs at a female/male ratio of 2:1. Prevalence of this genetic disorder is about 1/95.000 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 cases.

This technique is superior to FISH, due to its enhanced analytical sensitivity and reliability.