title: De novo complete trisomy 5p: clinical and neuroradiological findings.
abstract: Partial or complete duplication of 5p is a rare chromosomal abnormality in which genotype-phenotype correlation studies are hampered by other commonly associated chromosomal abnormalities. We report on a new patient in whom a complete de novo trisomy 5p in all metaphases represented the only chromosomal aberration. The present case further contributes to delineate the typical clinical picture of the trisomy 5p syndrome. Long-term clinical follow-up demonstrated low levels of secretory immunoglobulin A (IgA) on several occasions and likely related to the patient's recurrent respiratory infections (RRIs), a main clinical feature of the trisomy 5p syndrome. An extensive neuroradiological study detected a progressive triventricular hydrocephalus during the fist year of life with subsequent stabilization. Neuronal migration disorders were also present and probably account for the drug-resistant epilepsy presented by the patient.
authors.affiliation: Department of Pediatrics, University of Siena, Siena, Italy.
authors.forename: Salvatore
authors.initials: S
authors.lastname: Grosso
authors.forename: Maddalena
authors.initials: M
authors.lastname: Cioni
authors.forename: Gianluca
authors.initials: G
authors.lastname: Garibaldi
authors.forename: Lucia
authors.initials: L
authors.lastname: Pucci
authors.forename: Paolo
authors.initials: P
authors.lastname: Galluzzi
authors.forename: Raffaello
authors.initials: R
authors.lastname: Canapicchi
authors.forename: Guido
authors.initials: G
authors.lastname: Morgese
authors.forename: Paolo
authors.initials: P
authors.lastname: Balestri
mesh_terms: D001921:Brain / Q000473:pathology; D002675:Child, Preschool; D002869:Chromosome Aberrations; D002895:Chromosomes, Human, Pair 5; D005260:Female; D006801:Humans; D006849:Hydrocephalus / Q000235:genetics* / Q000473:pathology; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D008279:Magnetic Resonance Imaging; D009474:Neurons / Q000473:pathology; D013577:Syndrome