TRISOMY-13 IN A 4-YEAR-OLD BOY

The case of a four-year old boy with trisomy 13 is described. The boy does not have detectable cardiac or cerebral malformations. However, h e suffers from severe psychomotor delay, muscular hypotonia, cerebral convulsions, bilateral buphthalmos and bilateral optic nerve atrophy. Trisomy 13 was detected in all mitoses analysed in lymphocytes and in skin fibroblasts. Discussion: This case should serve as a reminder tha t trisomy 13 is compatible with long-term survival.