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Proximal partial 5p trisomy resulting from a maternal (19;5) insertion

I Lorda-Sánchez1, M Urioste, A Villa

  • 1Departamento de Farmacología, Facultad de Medicina, Universidad Complutense, Madrid, Spain.

American Journal of Medical Genetics
|February 11, 1997
PubMed
Summary

This study details a rare partial 5p duplication in a patient, confirmed by FISH. The clinical presentation aligns with other 5p duplication syndromes, highlighting the significance of band 5p13.

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Area of Science:

  • Genetics
  • Human Genetics
  • Chromosomal Abnormalities

Background:

  • Partial chromosomal duplications can lead to complex genetic disorders.
  • Duplications of the short arm of chromosome 5 (5p) are associated with specific clinical phenotypes.
  • Understanding the precise chromosomal regions involved is crucial for diagnosis and prognosis.

Observation:

  • A case of partial 5p11-->5p13.3 duplication was identified.
  • The duplication arose from a maternal insertion (19,5)(p11;p11-p13.3).
  • Diagnosis was confirmed using Fluorescence In Situ Hybridization (FISH) and complement component analysis.

Findings:

  • The patient's clinical features resembled those of complete 5p duplication syndrome.
  • The observed phenotype was also similar to other partial 5p duplications involving at least band 5p13.

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  • Band 5p13 appears to play a significant role in the clinical severity of 5p duplication disorders.

    • Implications:

    • This case contributes to the understanding of genotype-phenotype correlations in 5p duplications.
    • Identifying the critical region (band 5p13) aids in predicting clinical outcomes.
    • Further research into specific band involvement can refine diagnostic and counseling approaches for 5p duplication syndromes.