Ring chromosome 17: phenotype variation by deletion size.

Published

Journal Article

Ring chromosome 17 is a rare cytogenetic abnormality, with 12 previous reports in the literature. Some have a relatively mild phenotype characterized by seizures, mental retardation, skin changes and short stature. Other patients have Miller-Dieker syndrome (MDS), which includes lissencephaly, multiple dysmorphic features, severe mental retardation and shortened life expectancy. We describe two new cases of ring chromosome 17 and review the literature. Our cases and the other reports of patients without a deletion encompassing the Miller-Dieker region, delineate a fairly distinctive subgroup of individuals with ring 17, whose phenotype consists of growth and mental retardation, seizures, minor dysmorphic features, café-au-lait spots and retinal flecks. This classification of ring 17 into two distinct groups based on the size of the deletion and the phenotypic manifestations should facilitate clinical suspicion of this rare chromosomal abnormality.

Full Text

Duke Authors

Cited Authors

  • Shashi, V; White, JR; Pettenati, MJ; Root, SK; Bell, WL

Published Date

  • October 1, 2003

Published In

Volume / Issue

  • 64 / 4

Start / End Page

  • 361 - 365

PubMed ID

  • 12974742

Pubmed Central ID

  • 12974742

International Standard Serial Number (ISSN)

  • 0009-9163

Language

  • eng

Conference Location

  • Denmark