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

Eur J Med Genet. 2013 Nov;56(11):626-34. doi: 10.1016/j.ejmg.2013.08.005. Epub 2013 Sep 13.


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.

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.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Abnormalities, Multiple / diagnosis
  • Abnormalities, Multiple / genetics*
  • Brain Neoplasms / congenital
  • Brain Neoplasms / diagnosis
  • Brain Neoplasms / genetics*
  • Chromosome Deletion*
  • Chromosomes, Human, Pair 11 / genetics*
  • Craniosynostoses / diagnosis
  • Craniosynostoses / genetics*
  • Female
  • Gene Dosage
  • Germ-Line Mutation
  • Humans
  • Infant
  • N-Myc Proto-Oncogene Protein
  • Neuroblastoma / congenital
  • Neuroblastoma / diagnosis
  • Neuroblastoma / genetics*
  • Nuclear Proteins / genetics*
  • Oncogene Proteins / genetics*
  • Syndrome


  • MYCN protein, human
  • N-Myc Proto-Oncogene Protein
  • Nuclear Proteins
  • Oncogene Proteins