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Human Genetics

, Volume 86, Issue 2, pp 173–174 | Cite as

Translocation t(1;17)(q12;q25) with a clinical picture like of a proximal deletion of 1q: identification by in situ hybridization with chromosome 1-specific satellite DNA probes

  • Swetlana G. Vorsanova
  • Y. B. Yurov
  • M. B. Kurbatov
  • L. Z. Kazantzeva
Original Investigations

Summary

The authors report a case of a balanced 1;17 translocation with breakpoints located in the secondary constriction of chromosome 1. This translocation is associated with pathological symptoms similar to those observed following a proximal deletion of 1q. We request contact with colleques who have observed similar, or related, cases of translocation with breakpoints in heterochromatic regions of human chromosomes.

Keywords

Internal Medicine Metabolic Disease Clinical Picture Human Chromosome Heterochromatic Region 
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.

References

  1. Cook HJ, Hindley J (1979) Cloning of human satellite III DNA: different components are on different chromosomes. Nucleic Acids Res 6:3177–3197Google Scholar
  2. Schinzel A (1984) Catalogue of unbalanced chromosome aberration in man. deGruyter, Berlin New YorkGoogle Scholar
  3. Vorsanova SG, Yurov YB, Alexandrov IA, Mitkevich SP, Tirskaia AF (1986) 18p-syndrome: an unusual case and diagnosis by in situ hybridization with chromosome 18-specific alphoid DNA sequences. Hum Genet 72:185–187Google Scholar
  4. Yurov YB, Yakovlev AG, Alexandrov IA, Mitkevich SP, Rogaev EI, Vorsanova SG (1989) Collection of alpha-satellite DNA robes: highly polymorphic markers for centromeric regions of all human chromosomes. (10th International Workshop on Human Gene Mapping) Cytogenet Cell Genet 51:114Google Scholar

Copyright information

© Springer-Verlag 1990

Authors and Affiliations

  • Swetlana G. Vorsanova
    • 1
  • Y. B. Yurov
    • 1
  • M. B. Kurbatov
    • 1
  • L. Z. Kazantzeva
    • 1
  1. 1.Institute of Pediatrics and Children's Surgery, MH of the USSRMoscowUSSR

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