RING CHROMOSOME 14 MOSAICISM: AN UNUSUAL CASE ASSOCIATED WITH DEVELOPMENTAL DELAY AND EPILEPSY, CHARACTERIZED BY GENOME ARRAY-CGH

We report here on a patient with a ring 14 abnormality showing multiple deletions at Array-CGH analysis. The propositus is the first child of healthy unrelated parents and he has a healthy younger brother. At birth his weight was 2.8 kg, length 49 cm. No perinatal problems have been reported. At the age of 6 months he presented a cluster of febrile seizures, characterized by eye deviation to the right followed by generalized tonic-clonic phase. Some of the seizures were prolonged, lasting over 30 min, and were controlled with phenobarbital. He showed a mild hypotonia and developmental delay (developmental quotient at 12 months: 0.84). MRI scan was normal. EEG disclosed frontal and generalized high amplitude spike and waves. Seizures recurred in the first 2 years of life and were controlled with valproic acid. Physical examination revealed microcephaly, hypertelorism, microretrognathia, micropenis, small palpebral fissures, epicanthus, short philtrum, high arched palate, short neck, clinodactily, clumsiness.