An additional clinical sign of 17q21.31 microdeletion syndrome: preaxial polydactyly of hands with broad thumbs

Am J Med Genet A. 2015 Jul;167(7):1671-3. doi: 10.1002/ajmg.a.37054. Epub 2015 Apr 9.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics
  • Abnormalities, Multiple / pathology*
  • Child
  • Chromosome Deletion
  • Chromosomes, Human, Pair 17 / genetics
  • Comparative Genomic Hybridization
  • Humans
  • In Situ Hybridization, Fluorescence
  • Intellectual Disability / genetics
  • Intellectual Disability / pathology*
  • Italy
  • Male
  • Oligonucleotides / genetics
  • Polydactyly / diagnostic imaging*
  • Radiography
  • Thumb / abnormalities*
  • Thumb / diagnostic imaging

Substances

  • Oligonucleotides

Supplementary concepts

  • Chromosome 17q21.31 Deletion Syndrome
  • Polydactyly preaxial type 1