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Related Experiment Videos

Partial trisomy 13q22----qter. A new case.

F Galán1, R García, M S Aguilar

  • 1Departamento de Pediatría, Facultad de Medicina, Campus Universitario San Vincente del Raspeig, Alicante, Spain.

Annales De Genetique
|January 1, 1989
PubMed
Summary

A rare partial trisomy 13q chromosomal anomaly was identified in a newborn male. This condition presents a distinct phenotype, including cranial malformations and developmental delays, differentiating it from other craniosynostosis syndromes.

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Area of Science:

  • Genetics
  • Pediatrics
  • Medical Genetics

Background:

  • Partial trisomy 13q is a rare chromosomal abnormality.
  • Maternal translocation (13;15)(q22;p11) can result in this condition.
  • The phenotype can be mistaken for other craniosynostosis syndromes.