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Related Experiment Videos

Ring chromosome 17: phenotype variation by deletion size.

V Shashi1, J R White, M J Pettenati

  • 1Department of Pediatrics/Medical Genetics, Wake Forest University School of Medicine, Winston-Salem, NC 27157, USA. vshashi@wfubmc.edu

Clinical Genetics
|September 17, 2003
PubMed
Summary

Ring chromosome 17, a rare genetic condition, presents with distinct phenotypes. New research identifies a specific subgroup with unique features, aiding diagnosis.

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Area of Science:

  • Genetics
  • Cytogenetics
  • Human Genetics

Background:

  • Ring chromosome 17 is a rare cytogenetic abnormality.
  • Previous reports describe varied phenotypes, including mild symptoms and Miller-Dieker syndrome (MDS).

Observation:

  • Two new cases of ring chromosome 17 are presented.
  • Literature review of patients without the Miller-Dieker deletion region was conducted.

Findings:

  • A distinct subgroup of ring 17 chromosome individuals was identified.
  • This subgroup exhibits growth and mental retardation, seizures, minor dysmorphic features, café-au-lait spots, and retinal flecks.

Implications:

  • Classification of ring 17 into two distinct groups based on deletion size and phenotype is proposed.

Related Experiment Videos

  • This classification aims to improve clinical suspicion and diagnosis of this rare chromosomal abnormality.