A Case Report of 1p36 Deletion Syndrome and Suspected Cytomegalovirus Infection

Abstract

\n 1p36 Deletion Syndrome is a rare disease characterized by a partial deletion in the short arm of chromosome 1. The first reports of cases with microdeletion of chromosome 1p36 were published in 1980s, beginning with a report by Hain et al. The first pure case of 1p36 Deletion Syndrome was identified in the 1987 by Magenis et al. Its incidence is presumed as 1:5000 to 1:10000 and prevalence among men/women is 1/2. Characteristic signs are dysmorphic facial features, developmental delay, feeding difficulties, central nervous system anomalies, seizures, microcephaly, intellectual disability, vision problems, sensorineural deafness, congenital heart defects, skeletal and renal anomalies. Congenital Cytomegalovirus infection is an intrauterine disease with persistent effects on the fetus with no specific treatment. Common clinical findings are petechiae, jaundice at birth, hepatosplenomegaly, microcephaly, hypotonia, poor suck, sensorineural hearing loss, vision abnormalities, seizures, developmental cerebral anomalies, intrauterine development delay, prematurity and stillbirth. This case has been reported due to being a unique case having both such a rare disease like 1p36 Deletion Syndrome and a corresponding clinical picture to congenital Cytomegalovirus infection which she has firstly been determined with a positive CMV-DNA level when she was 7 months old.\n