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----p15.3), 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.
MeSH terms
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Abnormalities, Multiple / genetics*
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Abnormalities, Multiple / pathology
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Agenesis of Corpus Callosum*
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Chromosome Aberrations / genetics*
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Chromosome Aberrations / pathology
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Chromosome Disorders
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Chromosome Inversion*
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Chromosomes, Human, Pair 5 / ultrastructure*
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Dandy-Walker Syndrome / genetics*
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Dandy-Walker Syndrome / pathology
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Heart Septal Defects, Ventricular / genetics
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Humans
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Hydrocephalus / genetics*
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Infant, Newborn
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Male
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Trisomy*
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Viscera / abnormalities