title: Pericentric inversion of chromosome 2 and echogenic vasculature in the basal ganglia: a new finding?
abstract: Linear branching echogenicities in the thalamus or basal ganglia have been reported in infants with several genetic and nongenetic disorders. In this article, we report 2 cases of newborns with a neurosonographic diagnosis of thalamic/basal ganglia vasculopathy and karyotype analysis showing pericentric inversion of chromosome 2. To our knowledge, there has been no previous mention of an association between these entities.
authors.affiliation: Department of Critical Care Medicine, Section of Neonatology, University of Firenze, Careggi University Hospital, Viale Morgagni, 85-50134 Firenze, Italy.
authors.forename: Marco
authors.initials: M
authors.lastname: Pezzati
authors.forename: Maria Luisa Uzielli
authors.initials: ML
authors.lastname: Giovannucci
authors.forename: Luca
authors.initials: L
authors.lastname: Filippi
authors.forename: Carlo
authors.initials: C
authors.lastname: Dani
authors.forename: Firmino F
authors.initials: FF
authors.lastname: Rubaltelli
mesh_terms: D001479:Basal Ganglia / Q000002:abnormalities / Q000098:blood supply* / Q000000981:diagnostic imaging*; D002869:Chromosome Aberrations; D007446:Chromosome Inversion / Q000235:genetics*; D002889:Chromosomes, Human, Pair 2; D005500:Follow-Up Studies; D006801:Humans; D007231:Infant, Newborn; D002538:Intracranial Arteriovenous Malformations / Q000000981:diagnostic imaging* / Q000235:genetics; D008297:Male; D013788:Thalamus / Q000002:abnormalities / Q000098:blood supply / Q000000981:diagnostic imaging; D017585:Ultrasonography, Doppler, Transcranial