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Related Experiment Videos

Ring chromosome 12.

J P Park1, J M Graham, P A Andrews

  • 1Department of Pathology, Dartmouth-Hitchcock Medical Center, Hanover, New Hampshire.

American Journal of Medical Genetics
|February 1, 1988
PubMed
Summary
This summary is machine-generated.

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A rare ring chromosome 12 (r(12)) was identified in a patient with developmental delay and other anomalies. This case supports a general ring chromosome phenotype characterized by growth failure and intellectual disability.

Area of Science:

  • Genetics
  • Human Biology
  • Clinical Medicine

Background:

  • Ring chromosome 12 (r(12)) is a rare chromosomal abnormality.
  • Understanding the phenotypic spectrum of r(12) is crucial for genetic counseling and patient management.

Observation:

  • A 19-year-old male presented with developmental delay, expressive language deficiency, growth deficiency, café-au-lait spots, pectus excavatum, hypospadias, esotropia, clinodactyly, and hypothyroidism.
  • All analyzed cells (skin fibroblasts and peripheral blood) revealed a ring chromosome 12 (p13.3q24.3).

Findings:

  • The patient's phenotype aligns with previously reported cases of r(12).
  • The findings support a generalized ring chromosome phenotype, independent of the specific chromosome involved.
  • Breakpoints in r(12) cases are consistently located in telomeric regions, suggesting minimal genetic material deletion.

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Implications:

  • This case expands the understanding of the r(12) phenotype and its associated features.
  • The consistent breakpoint locations suggest a mechanism for ring chromosome formation and stability.
  • Further research into ring chromosome syndromes can improve diagnostic accuracy and therapeutic strategies.