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Familiäre D/E-Translokation*

Published online by Cambridge University Press:  01 August 2014

M. Meyer-Robisch  and
G. Schwanitz
M. Meyer-Robisch
Affiliation:
Institut für Humangenetik und Anthropologic derUniversität Erlangen-Nürnberg
G. Schwanitz
Affiliation:
Institut für Humangenetik und Anthropologic derUniversität Erlangen-Nürnberg

Summary

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Analysis of the chromosomes of the proposita, who died at 10 weeks of age, revealed a D/E translocation. The child showed the following abnormalities: hypertelorism; high palate; low set, malformed ears; left paresis of facial nerve; micrognathia; hemimelia with radius aplasia on the left side; open foramen ovale; open ductus botalli; ventricel septum defect; pelvic kidney left; hypotonia of the musculature; shortened thigh-adductors; and a dorsal flexion of the first toe on both sides.

The chromosome complement of the father included both reciprocals of a translocation between a D- and E-chromosome. The chromosome number of both father and child was 2n=46.

Type
Research Article
Information
Acta geneticae medicae et gemellologiae: twin research , Volume 16 , Issue 4 , October 1967 , pp. 365 - 375
Copyright
Copyright © The International Society for Twin Studies 1967

Footnotes

*

Herrn Professor Dr. Schreier, Direktor der Kinderklinik der Städt. Krankenanstalten Nürnberg, sind wir für die Überlassung der klinischen Befunde zu besonderem Dank verpflichtet.

References

Bibliographie

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