De novo 13q31.1-q32.1 interstitial deletion encompassing the miR-17-92 cluster in a patient with Feingold syndrome-2

Am J Med Genet A. 2013 Apr;161A(4):894-6. doi: 10.1002/ajmg.a.35781. Epub 2013 Mar 12.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Chromosome Deletion*
  • Chromosomes, Human, Pair 13*
  • Comparative Genomic Hybridization
  • Eyelids / abnormalities
  • Female
  • Humans
  • Infant
  • Intellectual Disability / diagnosis
  • Intellectual Disability / genetics*
  • Limb Deformities, Congenital / diagnosis
  • Limb Deformities, Congenital / genetics*
  • MicroRNAs / genetics*
  • Microcephaly / diagnosis
  • Microcephaly / genetics*
  • Multigene Family
  • Phenotype
  • RNA, Long Noncoding
  • Tracheoesophageal Fistula / diagnosis
  • Tracheoesophageal Fistula / genetics*

Substances

  • MIR17HG, human
  • MicroRNAs
  • RNA, Long Noncoding

Supplementary concepts

  • Oculodigitoesophagoduodenal syndrome