RING CHROMOSOME-9 - AN ATYPICAL CASE

A new case of ring chromosome 9 in a 36-month-old child is presented. In addition to the pathognomonic features of this rare disorder (only 21 cases reported), our patient some peculiarities, such as corpus cal losum hypoplasia and epileptic seizures (infantile periodic spasms). W e also observed a reduced level of leukocyte interferon alpha whose sy nthesis is controlled by a gene on chromosome 9 and which could be res ponsible for the recurrent respiratory tract infections, typical and s ometimes fatal in these patients.