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[Trisomy 18: phenotypic and biochemical variability].

G Fogu1, B Spano, R Sanna

  • 1Centro di Genetica Clinica dell'Universita di Sassari, Italia.

La Pediatria Medica E Chirurgica : Medical and Surgical Pediatrics
|July 1, 1991
PubMed
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This case study discusses Edward's syndrome (trisomy 18), highlighting rare symptoms. Researchers suggest these may stem from general chromosomal imbalance rather than specific chromosome 18 genes.

Area of Science:

  • Genetics
  • Developmental Biology
  • Clinical Medicine

Background:

  • Edward's syndrome, also known as trisomy 18, is a genetic disorder caused by the presence of an extra copy of chromosome 18.
  • The syndrome is associated with a wide range of developmental abnormalities and intellectual disability.
  • While many symptoms are well-documented, the phenotypic spectrum continues to be elucidated.

Observation:

  • This report details a specific case of Edward's syndrome presenting with several infrequently described clinical manifestations.
  • These unusual symptoms prompted a re-evaluation of their direct link to specific genes on chromosome 18.
  • Enzyme activity analysis revealed a gene dosage effect for Peptidase A, with its gene located on chromosome 18.

Findings:

  • The study proposes that rarely observed symptoms in trisomy 18 might represent non-specific consequences of the overall chromosomal imbalance.

Related Experiment Videos

  • This challenges the direct gene-disease association for all observed phenotypes in Edward's syndrome.
  • A gene dosage effect for Peptidase A was confirmed, linking enzyme levels to the chromosomal abnormality.

    • Implications:

    • This research broadens the understanding of trisomy 18's complex phenotypic expression.
    • It suggests a need to consider non-specific chromosomal effects when interpreting rare symptoms in genetic disorders.
    • Further investigation into gene dosage effects in trisomy 18 could reveal new diagnostic or therapeutic targets.