A del(13)(q21.32q31.2)dn refined to 21.9 Mb in a female toddler with irides heterochromia and hypopigmentation: appraisal of interstitial mid-13q deletions

Clin Dysmorphol. 2017 Jan;26(1):33-37. doi: 10.1097/MCD.0000000000000159.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Brain / pathology
  • Child
  • Child, Preschool
  • Chromosome Banding
  • Chromosome Deletion*
  • Chromosomes, Human, Pair 13*
  • Comparative Genomic Hybridization
  • Female
  • Genetic Association Studies
  • Humans
  • Hypopigmentation / diagnosis
  • Hypopigmentation / genetics*
  • Iris Diseases / diagnosis*
  • Iris Diseases / genetics*
  • Magnetic Resonance Imaging
  • Phenotype
  • Pigmentation Disorders / diagnosis*
  • Pigmentation Disorders / genetics*

Supplementary concepts

  • Heterochromia iridis