De novo complete trisomy 5p: clinical and neuroradiological findings.
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.
Grosso
Salvatore
S
Department of Pediatrics, University of Siena, Siena, Italy.
Cioni
Maddalena
M
Garibaldi
Gianluca
G
Pucci
Lucia
L
Galluzzi
Paolo
P
Canapicchi
Raffaello
R
Morgese
Guido
G
Balestri
Paolo
P
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