De novo translocation (2;18)(q21;q22) in a child with severe epilepsy, developmental delay and mild dysmorphism

De novo translocation (2;18)(q21;q22) in a patient with severe epilepsy dev elopmental delay and mild dysmorphism: we report on a patient presenting wi th severe epilepsy, hypotonia, developmental delay, blepharophimosis, low-s et ears, camptodactyly and tapering fingers, and cutaneous syndactyly of to es II and III of the right foot. The MRI showed some loss of volume of the white matter and delayed myelination, no other specific anomalies were pres ent. Chromosome analysis revealed a translocation involving chromosomes 2 a nd 18, which was characterized further by FISH using band-specific probes. The possibility of a submicroscopic deletion is discussed and the patient i s compared with patients reported in the literature with either 2q21 or 18q 22 deletion.