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Related Experiment Videos

Complete trisomy 17p a relatively new syndrome.

J T Martsolf1, L Larson, S M Jalal

  • 1Department of Pediatrics, University of North Dakota Medical School, Grand Forks 58202.

Annales De Genetique
|January 1, 1988
PubMed
Summary

This study describes a patient with a de novo 17p duplication, identifying common features of this rare genetic syndrome. Key characteristics include developmental delays, growth issues, heart defects, and distinct facial features.

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Area of Science:

  • Genetics
  • Pediatrics
  • Clinical Medicine

Background:

  • De novo duplications of chromosome 17p are rare genetic events.
  • Understanding these duplications is crucial for diagnosing and managing associated developmental disorders.

Purpose of the Study:

  • To describe a patient with a de novo 17p duplication.
  • To identify characteristic clinical features of this genetic syndrome through comparison with existing literature.

Main Methods:

  • Case report of a patient with de novo 17p duplication.
  • Comparative analysis of clinical data from six patients (including the current case) with 17p duplications.

Main Results:

  • The patient exhibited low birth weight, small size, severe mental and motor retardation, heart defect, and failure to thrive.

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  • Common facial features observed include a round, flat mid-face, small palpebral fissures, hypertelorism, microcephaly, and low-set prominent ears.

    • Conclusions:

    • The identified features suggest a recognizable syndrome associated with de novo 17p duplication.
    • Further research is warranted to fully delineate the spectrum and management of 17p duplication syndrome.