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Partial trisomy 21

Further evidence that trisomy of band 21q22 is essential for Down's phenotype

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Summary

Cytogenetic analysis of a 6-year-old girl with moderate mental retardation revealed 46 chromosomes with a tandem translocation (21;21) resulting in a partial trisomy 21. Only the terminal band 21q22 was not in triplicate. G-, Q-, R-, and C-banding techniques and silver nitrate staining of the nucleolus organizer regions (NORs) were used to identify this chromosome fully.

The phenotype of the patient was not typical for Down's syndrome, providing additional evidence that trisomy of band 21q22 is pathogenetic for the phenotype of Down's syndrome. This is also a new example in human pathology of a stable ‘dicentric’ chromosome in which one of the centromeric constrictions appears to be nonfunctional.

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References

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Hagemeijer, A., Smit, E.M.E. Partial trisomy 21. Hum Genet 38, 15–23 (1977). https://doi.org/10.1007/BF00295803

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Keywords

  • Nitrate
  • Internal Medicine
  • Metabolic Disease
  • Mental Retardation
  • Cytogenetic Analysis