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Related Experiment Videos

Partial trisomy 8q and partial monosomy 18p: a case report.

S Puvabanditsin1, E Garrow, F A Rabi

  • 1Department of Pediatrics, University of Medicine and Dentistry of New Jersey, Newark, NJ, USA. surasak1@aol.com <surasak1@aol.com>

Annales De Genetique
|December 8, 2004
PubMed
Summary

This study details a rare inherited genetic condition involving partial trisomy 8q and partial monosomy 18p. It is the first reported case of these specific chromosomal abnormalities occurring together in one patient.

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Area of Science:

  • Human Genetics
  • Cytogenetics
  • Clinical Medicine

Background:

  • Full trisomy 8 syndrome (Warkany syndrome) is a recognized genetic disorder.
  • Partial trisomy 8q and partial monosomy 18p are individually known conditions with documented phenotypes.
  • Genetic syndromes often arise from chromosomal abnormalities, impacting development and health.

Observation:

  • Clinical observations and cytogenetic studies were performed on a patient with a concurrent genetic abnormality.
  • The patient presented with a combination of partial trisomy for the long arm of chromosome 8 (8q) and partial monosomy for the short arm of chromosome 18 (18p).
  • This specific combination of partial trisomic and monosomic segments represents a novel presentation.

Findings:

  • The study reports the first known instance of inherited partial trisomy for distal 8q and partial monosomy for distal 18p co-occurring in a single patient.

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  • Cytogenetic analysis confirmed the presence of both an extra copy of a segment of chromosome 8q and a missing segment of chromosome 18p.
  • The observed clinical features are attributed to this unique chromosomal imbalance.

    • Implications:

    • This case expands the understanding of chromosomal abnormalities and their phenotypic variability.
    • Further research is warranted to delineate the specific clinical spectrum associated with this combined chromosomal abnormality.
    • Genetic counseling and diagnostic approaches may need to consider such complex rearrangements in affected families.