title: Interstitial 11q24 deletion: a new case and review of the literature.
abstract: We describe a 19-month-old male presenting with right stenotic megaureter, anemia and thrombocytopenia, cardiac and ophthalmologic abnormalities. Analysis with array-based comparative genomic hybridization (aCGH) revealed an interstitial deletion of about 2.4 Mb of chromosome 11q24.2q24.3. We compared the phenotype of our patient with that of recently reported patients studied by aCGH, who showed an overlapping deletion. We also analysed the gene content of the deleted region in order to investigate the possible involvement of specific genes in the clinical phenotype.
authors.affiliation: Laboratorio di Citogenetica, Istituto Giannina Gaslini, L.go G.Gaslini 5, 16147, Genova, Italy. eli.tassano@gmail.com.
authors.forename: Elisa
authors.initials: E
authors.lastname: Tassano
authors.affiliation: U.O. Neuropsichiatria Infantile, Istituto Giannina Gaslini, Genova, Italy.
authors.forename: Sara
authors.initials: S
authors.lastname: Janis
authors.affiliation: Dipartimento di Nefrologia, Istituto Giannina Gaslini, Genova, Italy.
authors.forename: Alberto
authors.initials: A
authors.lastname: Canepa
authors.affiliation: U.O. Neuropsichiatria Infantile, Istituto Giannina Gaslini, Genova, Italy.
authors.forename: Elisabetta
authors.initials: E
authors.lastname: Zanotto
authors.affiliation: Laboratorio di Citogenetica, Istituto Giannina Gaslini, L.go G.Gaslini 5, 16147, Genova, Italy.
authors.forename: Corrado
authors.initials: C
authors.lastname: Torello
authors.affiliation: Laboratorio di Citogenetica, Istituto Giannina Gaslini, L.go G.Gaslini 5, 16147, Genova, Italy.
authors.forename: Giorgio
authors.initials: G
authors.lastname: Gimelli
authors.affiliation: Laboratorio di Citogenetica, Istituto Giannina Gaslini, L.go G.Gaslini 5, 16147, Genova, Italy.
authors.forename: Cristina
authors.initials: C
authors.lastname: Cuoco
mesh_terms: D002872:Chromosome Deletion; D002880:Chromosomes, Human, Pair 11 / Q000235:genetics; D055028:Comparative Genomic Hybridization; D005838:Genotype; D006801:Humans; D007223:Infant; D054868:Jacobsen Distal 11q Deletion Syndrome / Q000175:diagnosis* / Q000235:genetics; D008297:Male; D010641:Phenotype
keywords: 11q24 deletion; Array-CGH; Genotype-phenotype correlation