Özet:

1P36 Delesion syndrome is a rare congenital malformation syndrome characterized by partial divisions in the short arm of the chromosome. The first cases began with the traitor and his friends in the early 1980s. In 1987, Magenis and his friends described the first pure case. The incidence of the disease is 1/5000-1/10000 and the proportion between women and men is 2/1 . Characteristic findings are typical face appearance, developmental tension, nutritional problems, central nervous system anomalies, epilepsy, microsphaly, vision problems, hearing loss, congenital heart defects, kidney and skeletal anomalies. Congenital cytomegalovirus infection is an intrauterine disease that has permanent effects on the fetus without a specific treatment. The common clinical findings of cytomegalovirus infection are thyroid, birth yellowness, hepatosplenomegaly, microsphaly, hypotonia, nutritional difficulties, sensorial hearing loss, vision abnormalities, epilepsy, developmental cerebral abnormalities, intrauterine development tension, prematurity and dead birth. This phenomenon was because of a rare illness such as 1P36 Delesion syndrome and a rare case with a clinic similar to congenital cytomegalovirus infection that was found CMV-DNA positive for the first time at the age of 7 months.