Constitutional 11q14-q22 chromosome deletion syndrome in a child with neuroblastoma MYCN single copy

Annalisa Passariello, Daniele De Brasi, Raffaella Defferrari, Rita Genesio, Maria Tufano, Katia Mazzocco, Maria Capasso, Roberta Migliorati, Tommy Martinsson, Paolo Siani, Lucio Nitsch, Gian Paolo Tonini

Research output: Contribution to journalArticlepeer-review


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.

Original languageEnglish
Pages (from-to)626-634
Number of pages9
JournalEuropean Journal of Medical Genetics
Issue number11
Publication statusPublished - Nov 2013


  • 11q syndrome
  • MYCN
  • Neuroblastoma
  • Oncogene

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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