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Related Experiment Videos

Ring chromosome 16: a new case.

M G Vianello1, F Cottafava, D Bartoli

  • 1II. Clinica Pediatrica, Università di Genova, Italy.

Annales De Genetique
|January 1, 1990
PubMed
Summary
This summary is machine-generated.

A rare ring chromosome 16 (r(16)) "de novo" karyotype was identified in a young girl. Her mild facial features, without internal organ issues, align with previous r(16) cases, suggesting a distinct r(16) syndrome.

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Area of Science:

  • Genetics
  • Clinical Genetics
  • Human Genetics

Background:

  • Ring chromosome 16 (r(16)) is a rare chromosomal abnormality.
  • Patients with r(16) typically present with mild craniofacial dysmorphism and lack visceral malformations.