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Partial duplication of 17p

✍ Scribed by Margret Bartsch-Sandhoff; Gertrud Hieronimi

Publisher
Springer
Year
1979
Tongue
English
Weight
218 KB
Volume
49
Category
Article
ISSN
0340-6717

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✦ Synopsis

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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