Human Genetics

, Volume 72, Issue 4, pp 320–322 | Cite as

Familial pericentric inversion of chromosome 12

  • I. Voiculescu
  • G. Barbi
  • G. Wolff
  • P. Steinbach
  • Elke Back
  • W. Schempp
Original Investigations
Received:
Revised:

Summary

A pericentric inversion in one of the chromosomes 12, found in two families living in the same region, is deseribed. This inversion was detected during routine chromosomal analysis in two separate laboratories. The breakpoints were at 12p112 and 12q13. The inverted segment represented approximately 20% of the length of chromosome 12. Twenty nine descendants of carriers of the inversion were investigated, and the inversion was present in 23 of them. The other six descendants showed a normal karyotype. After correction for sample bias with the single selection scheme, a segregation ratio of 3:1 was estimated, indicating that the inverted chromosome 12 was preferentially transmitted. All the carriers of the inversion were phenotypically normal, without noticeable fertility disturbances.

Keywords

Internal Medicine Metabolic Disease Selection Scheme Sample Bias Segregation Ratio 
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References

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Copyright information

© Springer-Verlag 1986

Authors and Affiliations

  • I. Voiculescu
    • 1
  • G. Barbi
    • 2
  • G. Wolff
    • 1
  • P. Steinbach
    • 2
  • Elke Back
    • 1
  • W. Schempp
    • 1
  1. 1.Institut für Humangenetik und Anthropologie der UniversitätFreiburg i. Br.Federal Republic of Germany
  2. 2.Abreilung Klinische Genetik der UniversitätUlmFederal Republic of Germany

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