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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

Breibart, S. et al. (1964). Developmental retardation associated with an unbalanced 13-15/18 translocation. Cytogenetics, 3: 252–257.Google Scholar
Habedank, M. (1966). Die klinischen Merkmale der Trisomie E. Pädiat. Praxis, 5: 519–531.Google Scholar
Migeon, B. R., Young, W. J. (1964). Reciprocal (D; E) translocation: euploid transmission in three generations. Bull. Johns Hopk. Hosp., 155: 379–388.Google Scholar
Rieger, R., Michaelis, A. (1958). Genetisches und cytogenetisches Wörterbuch. 2 Aufl., Springer, Berlin-Göttingen-Heidelberg.Google Scholar
Tönz, O, et al. (1965). Das Trisomie-18-Syndrom. Mitteilung von drei Fällen. Schweiz. Med. Wschr., 95: 509–516.Google Scholar
Turpin, R., Lejeune, J. (1965). Les Chromosomes Humains. Gauthier-Villars, Paris.Google Scholar
Vislie, H. et al. (1962). Chromosome abnormalities in a mother and two mentally retarded children. Lancet, 2: 76–78.Google Scholar
Zellweger, H. et al. (1965). Phocomelia and trisomy E. A.Ge.Me.Ge. 14: 164–173.Google ScholarPubMed