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Human Genetics

, Volume 72, Issue 2, pp 185–187 | Cite as

18p Syndrome: an unusual case and diagnosis by in situ hybridization with chromosome 18-specific alphoid DNA sequence

  • Svetlana G. Vorsanova
  • Y. B. Yurov
  • I. A. Alexandrov
  • I. A. Demidova
  • S. P. Mitkevich
  • A. F. Tirskaia
Clinical Case Reports

Summary

A patient with an atypical clinical picture of 18p syndrome is described. By the in situ hybridization technique we localized the chromosome 18-specific cloned repetitive sequence to metaphase chromosomes of the patient. The predominant hybridization of the probe was found in pericentromeric regions of homologous chromosomes 18. The amount of pericentromeric DNA measured by in situ hybridization differed between homologous chromosomes; and the number of radioactive grains was statistically greater in the normal chromosome 18 than in the aberrant chromosome 18p. The results indicate that this probe may be useful in clinical cytogenetics for identification of aberrant chromosomes, localization of breakpoints, and studies of C-band DNA polymorphism of chromosome 18.

Keywords

Internal Medicine Metabolic Disease Clinical Picture Repetitive Sequence Homologous Chromosome 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

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References

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Copyright information

© Springer-Verlag 1986

Authors and Affiliations

  • Svetlana G. Vorsanova
    • 1
  • Y. B. Yurov
    • 2
  • I. A. Alexandrov
    • 2
  • I. A. Demidova
    • 1
  • S. P. Mitkevich
    • 2
  • A. F. Tirskaia
    • 1
  1. 1.Institute of Pediatrics and Children's SurgeryMinistry of Health of the Russian Soviet Federal Socialist RepublicMoscowRussia
  2. 2.All-Union Research Center of Mental HealthAcademy of Medical Sciences of the USSRMoscowRussia

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