Trisomy of the short arm of chromosome 5: autopsy data in a malformed newborn with inv dup (5) (p13.1----p15.3).
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.
D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology; D061085:Agenesis of Corpus Callosum; D002869:Chromosome Aberrations / Q000235:genetics* / Q000473:pathology; D025063:Chromosome Disorders; D007446:Chromosome Inversion; D002895:Chromosomes, Human, Pair 5 / Q000648:ultrastructure*; D003616:Dandy-Walker Syndrome / Q000235:genetics* / Q000473:pathology; D006345:Heart Septal Defects, Ventricular / Q000235:genetics; D006801:Humans; D006849:Hydrocephalus / Q000235:genetics*; D007231:Infant, Newborn; D008297:Male; D014314:Trisomy; D014781:Viscera / Q000002:abnormalities