Mild phenotype in a patient with a de-novo 2.9-Mb interstitial deletion at 13q12.11

Clin Dysmorphol. 2011 Apr;20(2):61-65. doi: 10.1097/MCD.0b013e3283448498.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / diagnosis*
  • Adolescent
  • Cervical Vertebrae / abnormalities
  • Chromosome Deletion
  • Chromosome Disorders / diagnosis
  • Chromosomes, Human, Pair 13
  • Comparative Genomic Hybridization
  • Craniosynostoses / diagnosis
  • Facial Asymmetry / congenital
  • Facial Asymmetry / diagnosis
  • Heart Murmurs / congenital
  • Heart Murmurs / diagnosis
  • Humans
  • Hypertrichosis / congenital
  • Hypertrichosis / diagnosis
  • Male
  • Phenotype*
  • Torticollis / congenital
  • Torticollis / diagnosis

Supplementary concepts

  • 13q deletion syndrome