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Pediatric Radiology

, Volume 7, Issue 1, pp 56–57 | Cite as

Hereditary malformation of the toes and fingers in a family with double translocation heterozygosity

  • P. F. Dijkstra
  • E. M. Bleeker-Wagemakers
Case Reports
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Abstract

A hereditary malformation of the metatarsophalangeal joints, called here “tear drop” deformity, and a cut off appearence of the distal phalanges of the toes is described in a family with double translocation t (7; 12), t (2; 6) heterozygosity. A bracydactyly E was also found. These disorders seemed unrelated to the chromosomal aberration

Key Words

Chromosomal aberration Translocation t (7; 12), t (2; 6) Brachydactyly E Tear drop deformity 

References

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    Bijlsma, J. B., France, H. F. de, Bleeker-Wagemakers, E. M., Dijkstra, P. F.: Double translocation t (7; 12), t (2; 6) heterozygosity in one family: contribution to the trisomy 12p syndrome. Hum. Genet. (in print)Google Scholar
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    Poznanski, A. K.: The hand in radiologic diagnosis Volume 4, in: Monographs in Clinical Radiology. Philadelphia, London, Toronto: Saunders 1974Google Scholar
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    Poznanski, A. K., Werder, E. A., Giedion, A.: The pattern of shortening of the bones of the hand in PHP and PPHP-A comparison with brachydactyly E, Turner syndrome and acrodysostosis. Radiology123, 707 (1977)PubMedGoogle Scholar

Copyright information

© Springer-Verlag 1978

Authors and Affiliations

  • P. F. Dijkstra
    • 1
  • E. M. Bleeker-Wagemakers
    • 2
    • 3
  1. 1.Central X-Ray DepartmentUniversity of AmsterdamAmsterdamThe Netherlands
  2. 2.Department of Human GeneticsUniversity of AmsterdamAmsterdamThe Netherlands
  3. 3.Netherlands Ophthalmic Research InstituteAmsterdamThe Netherlands

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