Partial duplication of 17p (original) (raw)

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Summary

An inherited partial duplication syndrome of 17p is described. A comparison of the symptoms of a de novo partial duplication of 17p (Latta and Hoo, 1974) and those of our own case seems to indicate a characteristic syndrome. The main features include a small-for-date baby born at full term, small stature, microcephaly, typical facial changes, a heart defect, contractures of different joints, and deformities of the feet. The patients show severe motor and mental retardation.

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References

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Authors and Affiliations

1. Institut für Humangenetik, Universitätsklinikum Essen, D-4300, Essen, Federal Republic of Germany
   Margret Bartsch-Sandhoff
2. Olgahospital Stuttgart, D-7000, Stuttgart, Federal Republic of Germany
   Gertrud Hieronimi

Authors

1. Margret Bartsch-Sandhoff
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2. Gertrud Hieronimi
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Bartsch-Sandhoff, M., Hieronimi, G. Partial duplication of 17p.Hum Genet 49, 123–127 (1979). https://doi.org/10.1007/BF00277633

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• Received: 16 December 1978
• Issue Date: January 1979
• DOI: https://doi.org/10.1007/BF00277633

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