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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Paris Conference (1971), Supplement (1975): Standardization in human cytogenetics. Birth defects: Original Article Series XI, 9, 1975. The National Foundation, New York
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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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DOI: https://doi.org/10.1007/BF00277633