A 20.5-Mb germline deletion of 13q13.1-->q14.3 and somatic mutations of the RB1 gene in an 8-year-old girl with unilateral retinoblastoma, developmental delay and mental retardation

Genet Couns. 2011;22(4):431-4.
No abstract available

Publication types

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

MeSH terms

  • Alleles*
  • Child
  • Chromosome Deletion*
  • DNA Mutational Analysis
  • Developmental Disabilities / diagnosis
  • Developmental Disabilities / genetics*
  • Female
  • Germ-Line Mutation / genetics*
  • Humans
  • Intellectual Disability / diagnosis
  • Intellectual Disability / genetics*
  • Nucleic Acid Hybridization
  • Phenotype
  • Retinal Neoplasms / diagnosis
  • Retinal Neoplasms / genetics*
  • Retinoblastoma / diagnosis
  • Retinoblastoma / genetics*
  • Retinoblastoma Protein / genetics*

Substances

  • Retinoblastoma Protein