Trisomy of the short arm of chromosome 5: autopsy data in a malformed newborn with inv dup (5)(p13.1 → p15.3)
- 1 July 1987
- journal article
- research article
- Published by Wiley in Clinical Genetics
- Vol. 32 (1) , 49-56
- https://doi.org/10.1111/j.1399-0004.1987.tb03323.x
Abstract
In this paper we report detailed autopsy data of a malformed male newborn with 5p trisomy due to a de novo inverted 5p duplication, inv dup (5)(p13.1 .fwdarw. 15.3), and we compare these data with the findings in previous reports on 5p trisomy. Cerebral malformations, i.e. agenesis of corpus callosum, and Dandy-Walker cyst malformations, seem to be another characteristic finding in this partial autosomal duplication syndrome.Keywords
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