Ring 9 Chromosome Syndrome in Black African Infant

Abstract

Ring chromosomes are rare entities, usually associated with phenotypic abnormalities in correlation with the loss of genetic material. Ring 9 chromosome syndrome is very rare. The majority of reported cases revealed a less distinct clinical picture of shortness of stature, microcephaly and mental retardation. A minority had the clinical pattern of patients with the deletion of the short arm of chromosome 9 syndrome. We reported here a black female African with malformation and a mixture of major features in ring 9 and deletion of the short arm of chromosome 9 syndrome characteristics upon ring shape by one of chromosome 9 at cytogenetic evaluation.