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Related Experiment Videos

[Ring chromosome 18].

U M Andersen1

  • 1Paediatrisk afdeling, Randers Centralsygehus.

Ugeskrift for Laeger
|November 9, 1992
PubMed
Summary
This summary is machine-generated.

Ring chromosome 18, a rare genetic condition, typically presents with specific physical and cytogenetic features. This report details an additional patient exhibiting these characteristics, along with previously undocumented skeletal abnormalities in the feet.

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Area of Science:

  • Genetics
  • Human Chromosome Research
  • Rare Diseases

Context:

  • Ring chromosome 18 (r(18)) is a rare chromosomal abnormality.
  • Approximately 70 cases of r(18) have been documented globally.
  • Patients typically present with a recognizable set of physical and cytogenetic features.

Purpose:

  • To report a novel case of ring chromosome 18.
  • To document additional physical manifestations associated with r(18).
  • To highlight skeletal abnormalities in the feet as a potential feature of r(18).

Summary:

  • A patient with the characteristic features of ring chromosome 18 (46,XX,r(18)) is presented.
  • This patient exhibits the typical physical and cytogenetic findings associated with r(18).

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  • Notably, this case also presents with previously unreported skeletal abnormalities affecting the feet.

    • Impact:

    • Expands the known phenotypic spectrum of ring chromosome 18.
    • Provides valuable data for genetic counseling and clinical management of r(18) patients.
    • May prompt further investigation into the genetic basis of foot abnormalities in chromosomal disorders.