title: Constitutional 11q14-q22 chromosome deletion syndrome in a child with neuroblastoma MYCN single copy.
abstract: Constitutional 11q deletion is a chromosome imbalance possibly found in MCA/MR patients analyzed for chromosomal anomalies. Its role in determining the phenotype depends on extension and position of deleted region. Loss of heterozygosity of 11q (region 11q23) is also associated with neuroblastoma, the most frequent extra cranial cancer in children. It represents one of the most frequent cytogenetic abnormalities observed in the tumor of patients with high-risk disease even if germline deletion of 11q in neuroblastoma is rare. Hereby, we describe a 18 months old girl presenting with trigonocephaly and dysmorphic facial features, including hypotelorism, broad depressed nasal bridge, micrognathia, synophrys, epicanthal folds, and with a stage 4 neuroblastoma without MYCN amplification, carrying a germline 11q deletion (11q14.1-q22.3), outside from Jacobsen syndrome and from neuroblastoma 11q critical regions. The role of 11q deletion in determining the clinical phenotype and its association with neuroblastoma development in the patient are discussed.
authors.affiliation: Department of Medical Translational Sciences, University of Naples "Federico II", Naples, Italy; Neonatology Unit, AORN dei Colli - V. Monaldi Hospital, Naples, Italy. Electronic address: annalisa.passariello@unina.it.
authors.forename: Annalisa
authors.initials: A
authors.lastname: Passariello
authors.forename: Daniele
authors.initials: D
authors.lastname: De Brasi
authors.forename: Raffaella
authors.initials: R
authors.lastname: Defferrari
authors.forename: Rita
authors.initials: R
authors.lastname: Genesio
authors.forename: Maria
authors.initials: M
authors.lastname: Tufano
authors.forename: Katia
authors.initials: K
authors.lastname: Mazzocco
authors.forename: Maria
authors.initials: M
authors.lastname: Capasso
authors.forename: Roberta
authors.initials: R
authors.lastname: Migliorati
authors.forename: Tommy
authors.initials: T
authors.lastname: Martinsson
authors.forename: Paolo
authors.initials: P
authors.lastname: Siani
authors.forename: Lucio
authors.initials: L
authors.lastname: Nitsch
authors.forename: Gian Paolo
authors.initials: GP
authors.lastname: Tonini
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics*; D001932:Brain Neoplasms / Q000151:congenital / Q000175:diagnosis / Q000235:genetics*; D002872:Chromosome Deletion; D002880:Chromosomes, Human, Pair 11 / Q000235:genetics*; D003398:Craniosynostoses / Q000175:diagnosis / Q000235:genetics*; D005260:Female; D018628:Gene Dosage; D018095:Germ-Line Mutation; D006801:Humans; D007223:Infant; D000071447:N-Myc Proto-Oncogene Protein; D009447:Neuroblastoma / Q000151:congenital / Q000175:diagnosis / Q000235:genetics*; D009687:Nuclear Proteins / Q000235:genetics*; D015513:Oncogene Proteins / Q000235:genetics*; D013577:Syndrome
chemical_list: C459801:MYCN protein, human; D000071447:N-Myc Proto-Oncogene Protein; D009687:Nuclear Proteins; D015513:Oncogene Proteins
keywords: (123)MIBG; 11q syndrome; 123-iodine metaidobenzoguadinyl scintigrafy; ARSH, ARSE, ARSD; CNVs; CR; DCN1; DCUN1D5; DECIPHER; DGV; ECARUCA; European cytogeneticists association register of unbalanced chromosome aberrations; FISH; GYG2; INSS; International NB Staging System; MCA/MR; MLPA; MMP13; MMPs; MYCN; NB; Neuroblastoma; Oncogene; PAR1; SLE; aCGH; arilsulphatases genes; array comparative genomic hybridization; critical region; database of chromosomal imbalance and phenotype in humans using ensembl resources; database of genomic variants; defective in cullin neddylation 1; domain containing 5; fluorescence in situ hybridization; glycogenin 2 gene; matrix metalloproteinase 13; matrix metalloproteinase genes; multiple congenital anomaly/mental retardation; multiplex ligation-dependent probe amplification; neuroblastoma; pseudo autosomal region 1; structural copy number variations; systemic lupus erythematosus