This syndrome is due to microdeletions in the 11p13 chromosomal region which includes the WT1 gene locus. Symptoms typically include a predisposition to Wilms tumors, aniridia, genitourinary malformations and mental retardation (WAGR syndrome). In a subgroup of patients, WAGR syndrome may be accompanied by severe childhood onset obesity. Estimated incidence of this syndrome is ~1/90.000 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.