An 18p- syndrome due to 15/18 translocation with facial palsy and deafness.
A case of translocation between chromosomes No. 15 and 18 was described. Phenotype of the patient was almost consistent with that of the 18p- syndrome. In addition to the typical feature of 18p- syndrome, he had perceptive deafness, and abducens nerve and facial nerve palsies. Giemsa-binding technique demonstrated patient's karyotype to be 45, XY, -15, -18, +t (15; 18).
D002675:Child, Preschool; D002901:Chromosomes, Human, 13-15; D002902:Chromosomes, Human, 16-18; D003638:Deafness / Q000235:genetics*; D005158:Facial Paralysis / Q000235:genetics*; D006801:Humans; D008297:Male; D013577:Syndrome; D014178:Translocation, Genetic