Partial duplication of 17p |
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| Authors: | Margret Bartsch-Sandhoff Gertrud Hieronimi |
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| Institution: | (1) Institut für Humangenetik, Universitätsklinikum Essen, D-4300 Essen, Federal Republic of Germany;(2) Olgahospital Stuttgart, D-7000 Stuttgart, Federal Republic of Germany;(3) Hufelandstr. 55, D-4300 Essen, Federal Republic of Germany |
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| Abstract: | 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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