Human Genetics

, Volume 96, Issue 3, pp 345–349 | Cite as

Investigations with fluorescence in situ hybridization (FISH) demonstrate loss of the telomeres on the reciprocal chromosome in three unbalanced translocations involving chromosome 15 in the Prader-Willi and Angelman syndromes

  • A. Jauch
  • L. Robson
  • A. Smith
Short Communication

Abstract

Two patients with classical features of Angelman syndrome (AS) and one with Prader-Willi syndrome (PWS) had unbalanced reciprocal translocations involving the chromosome 15 proximal long arm and the telomeric region of chromosomes 7, 8 and 10. Fluorescence isitu hybridization (FISH) was used for the detection of chromosome 15(q11-13) deletions (with probes from the PWS/AS region) and to define the involvement of the telomere in the derivative chromosomes (with library probes and telomere-specific probes). The 15(q11-13) region was not deleted in one patient but was deleted in the other two. The telomere on the derivative chromosomes 7, 8 and 10 was deleted in all three cases. Thus, these are true reciprocal translocations in which there has been loss of the small satellited reciprocal chromosome (15) fragment.

Keywords

Internal Medicine Metabolic Disease Classical Feature Reciprocal Translocation Telomeric 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.

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Copyright information

© Springer-Verlag 1995

Authors and Affiliations

  • A. Jauch
    • 1
  • L. Robson
    • 2
  • A. Smith
    • 2
  1. 1.Institut für Humangenetik und Anthropologie der Universität HeidelbergHeidelbergGermany
  2. 2.Cytogenetics Unit, Children's HospitalCamperdown, SydneyAustralia

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