All issues > Volume 46(1); 2003

Case Report

J Korean Pediatr Soc. 2003;46(1):83-85. Published online January 15, 2003.

6p23 Deletion Syndrome : Report of a Case in a Preterm Baby

Hyeon-Soo HS Lee¹

¹Department of Pediatrics & Neonatal Medicine, College of Medicine, Kangwon National University, Chuncheon, Korea

Correspondence Hyeon-Soo HS Lee ,Email: premee@kangwon.ac.kr

Abstract

Deletion of the short arm of chromosome 6 is relatively rare, with the characteristic features of craniofacial malformations, hypotonia, and defects of the heart and kidney, with hydrocephalus and eye abnormalities. Here author reports a premature girl with bilateral anophthalmia, bilateral hydrocephalus and marked hypotonia, whose chromosome analysis revealed a 46, XX, del(6)(p23) chromosome constitution.

Keywords :Chromosome 6, Terminal deletion