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Related Experiment Videos

Free proximal trisomy 21 without the Down syndrome.

J P Park1, D H Wurster-Hill, P A Andrews

  • 1Department of Pathology, Dartmouth-Hitchcock Medical Center, Hanover, New Hampshire.

Clinical Genetics
|November 1, 1987
PubMed
Summary

Partial duplication of chromosome 21, specifically band 21q22, is linked to Down syndrome. Two cases of trisomy 21 without Down syndrome symptoms challenge this, suggesting other factors are involved.

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Area of Science:

  • Genetics
  • Human Chromosome Studies
  • Developmental Biology

Background:

  • Down syndrome is typically associated with trisomy of chromosome 21.
  • Previous research indicated that specific regions of chromosome 21, particularly band 21q22, harbor determinants for Down syndrome.
  • Understanding the genetic basis of Down syndrome is crucial for diagnosis and potential therapies.

Observation:

  • Two cases of free proximal trisomy 21 were identified.
  • These individuals did not exhibit the typical manifestations of Down syndrome.
  • Phenotypic anomalies observed included microcephaly, short stature, hypoplastic nails, and developmental delay.

Findings:

  • The presence of free proximal trisomy 21 without Down syndrome symptoms suggests that trisomy alone for this region may not be sufficient to cause the full Down syndrome phenotype.

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  • The findings support the hypothesis that band 21q22 contains critical genetic determinants for Down syndrome.
  • The specific genetic makeup and potential modifier genes may influence the expression of the Down syndrome phenotype.

    • Implications:

    • These cases refine our understanding of the genotype-phenotype correlation in chromosome 21 abnormalities.
    • Further research into the specific genes within 21q22 and their interactions is warranted.
    • This study contributes to the precise genetic mapping of Down syndrome and may inform future diagnostic and counseling approaches.