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Ring chromosome 17: phenotype variation by deletion size.

Publication ,  Journal Article
Shashi, V; White, JR; Pettenati, MJ; Root, SK; Bell, WL
Published in: Clin Genet
October 2003

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.

Duke Scholars

Published In

Clin Genet

DOI

ISSN

0009-9163

Publication Date

October 2003

Volume

64

Issue

4

Start / End Page

361 / 365

Location

Denmark

Related Subject Headings

  • Syndrome
  • Ring Chromosomes
  • Phenotype
  • Male
  • Magnetic Resonance Imaging
  • Karyotyping
  • Intellectual Disability
  • In Situ Hybridization, Fluorescence
  • Humans
  • Genetics & Heredity
 

Citation

APA
Chicago
ICMJE
MLA
NLM
Shashi, V., White, J. R., Pettenati, M. J., Root, S. K., & Bell, W. L. (2003). Ring chromosome 17: phenotype variation by deletion size. Clin Genet, 64(4), 361–365. https://doi.org/10.1034/j.1399-0004.2003.00146.x
Shashi, V., J. R. White, M. J. Pettenati, S. K. Root, and W. L. Bell. “Ring chromosome 17: phenotype variation by deletion size.Clin Genet 64, no. 4 (October 2003): 361–65. https://doi.org/10.1034/j.1399-0004.2003.00146.x.
Shashi V, White JR, Pettenati MJ, Root SK, Bell WL. Ring chromosome 17: phenotype variation by deletion size. Clin Genet. 2003 Oct;64(4):361–5.
Shashi, V., et al. “Ring chromosome 17: phenotype variation by deletion size.Clin Genet, vol. 64, no. 4, Oct. 2003, pp. 361–65. Pubmed, doi:10.1034/j.1399-0004.2003.00146.x.
Shashi V, White JR, Pettenati MJ, Root SK, Bell WL. Ring chromosome 17: phenotype variation by deletion size. Clin Genet. 2003 Oct;64(4):361–365.
Journal cover image

Published In

Clin Genet

DOI

ISSN

0009-9163

Publication Date

October 2003

Volume

64

Issue

4

Start / End Page

361 / 365

Location

Denmark

Related Subject Headings

  • Syndrome
  • Ring Chromosomes
  • Phenotype
  • Male
  • Magnetic Resonance Imaging
  • Karyotyping
  • Intellectual Disability
  • In Situ Hybridization, Fluorescence
  • Humans
  • Genetics & Heredity