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De novo complete trisomy 5p: Clinical and neuroradiological findings

✍ Scribed by Grosso, Salvatore ;Cioni, Maddalena ;Garibaldi, Gianluca ;Pucci, Lucia ;Galluzzi, Paolo ;Canapicchi, Raffaello ;Morgese, Guido ;Balestri, Paolo

Publisher
John Wiley and Sons
Year
2002
Tongue
English
Weight
166 KB
Volume
112
Category
Article
ISSN
0148-7299

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✦ Synopsis

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. © 2002 Wiley‐Liss, Inc.

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