Neuroblastoma in a boy with MCA/MR syndrome, deletion 11q, and duplication 12q

Am J Med Genet. 1995 Jul 31;58(1):46-9. doi: 10.1002/ajmg.1320580110.

Abstract

Deletion 11q23-->qter and duplication 12q23-->qter are described in a boy with neuroblastoma, multiple congenital anomalies, and mental retardation. The patient has clinical manifestations of 11q deletion and 12q duplication syndromes. The possible involvement of the segment 11q23-->24 in the cause of the neuroblastoma is discussed.

Publication types

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

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Adult
  • Chromosome Aberrations*
  • Chromosome Banding
  • Chromosome Deletion
  • Chromosome Disorders*
  • Chromosome Mapping
  • Chromosomes, Human, Pair 11*
  • Chromosomes, Human, Pair 12*
  • Female
  • Humans
  • Infant
  • Intellectual Disability / complications
  • Intellectual Disability / genetics*
  • Karyotyping
  • Lymphocytes / pathology
  • Male
  • Neuroblastoma / complications
  • Neuroblastoma / genetics*