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Mosaic 5p tetrasomy

W S Stanley1, C M Powell, G C Devine

  • 1Department of Laboratory Medicine, Children's National Medical Center, Washington, D.C. 20010.

American Journal of Medical Genetics
|March 15, 1993
PubMed
Summary
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This study details the first reported case of tetrasomy 5p in a young girl with seizures and developmental delays. The supernumerary marker chromosome i(5p) was identified, presenting unique clinical features.

Area of Science:

  • Human genetics
  • Cytogenetics
  • Pediatric neurology

Background:

  • Genetic abnormalities involving chromosome 5 can lead to various developmental disorders.
  • Understanding specific chromosomal aberrations is crucial for diagnosing and managing rare genetic conditions.
  • The dup(5p) syndrome is a known condition associated with duplications on the short arm of chromosome 5.

Observation:

  • A 5-year-old girl presented with seizures, psychomotor retardation, and hyperpigmentation.
  • Cytogenetic analysis revealed a supernumerary marker chromosome, identified as an isochromosome of the short arm of chromosome 5 (i(5p)), in her fibroblasts.
  • This chromosomal finding represents tetrasomy 5p, meaning four copies of the 5p region are present.

Findings:

  • The patient's condition, tetrasomy 5p, is presented as the first reported case.

Related Experiment Videos

  • The clinical manifestations partially overlap with, but are not identical to, the known dup(5p) syndrome.
  • Cytogenetic analysis of phenotypically normal relatives identified a different marker chromosome in their lymphocytes, unrelated to the proband's i(5p).

    • Implications:

    • This case expands the understanding of chromosomal abnormalities involving chromosome 5.
    • It highlights the phenotypic variability associated with alterations in the 5p region.
    • Further research is needed to delineate the specific genotype-phenotype correlations for tetrasomy 5p.