J Korean Pediatr Soc.
2003 Jan;46(1):83-85.
6p23 Deletion Syndrome: Report of a Case in a Preterm Baby
- Affiliations
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- 1epartment of Pediatrics & Neonatal Medicine, College of Medicine, Kangwon National University, Chuncheon, Korea. 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.
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