6p23 Deletion Syndrome: Report of a Case in a Preterm Baby.
- Author:
Hyeon Soo LEE
1
Author Information
1. epartment of Pediatrics & Neonatal Medicine, College of Medicine, Kangwon National University, Chuncheon, Korea. premee@kangwon.ac.kr
- Publication Type:Case Report
- Keywords:
Chromosome 6;
Terminal deletion
- MeSH:
Infant, Newborn;
Humans
- From:Journal of the Korean Pediatric Society
2003;46(1):83-85
- CountryRepublic of Korea
- Language:Korean
-
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.
