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Related Experiment Videos

Proximal interstitial 6q deletion: a recognizable syndrome

R Kumar1, D Riordan, A J Dawson

  • 1Department of Pediatrics and Child Health, University of Manitoba and Children's Hospital, Winnipeg, Canada.

American Journal of Medical Genetics
|August 22, 1997
PubMed
Summary

This study details a rare proximal deletion 6q syndrome case in an 8-year-old boy. His characteristic facial features align with previously documented instances of this genetic disorder.

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Area of Science:

  • Genetics
  • Human Chromosome Studies
  • Pediatric Rare Diseases

Background:

  • Proximal deletion 6q syndrome is a rare genetic disorder.
  • Characterized by specific facial dysmorphies and developmental issues.
  • Previous cases highlight a spectrum of clinical presentations.