De Novo 21q22.1q22.2 deletion including RUNX1 mimicking a congenital infection

Am J Med Genet A. 2011 Jan;155A(1):126-9. doi: 10.1002/ajmg.a.33809.
No abstract available

Publication types

  • Case Reports
  • Comment
  • Letter

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Child
  • Chromosome Deletion
  • Chromosomes, Human, Pair 21 / genetics
  • Core Binding Factor Alpha 2 Subunit / genetics*
  • Diagnosis, Differential
  • Humans
  • Intellectual Disability / genetics*
  • Male
  • Phenotype*
  • Syndrome
  • Thrombocytopenia / genetics*

Substances

  • Core Binding Factor Alpha 2 Subunit
  • RUNX1 protein, human

Supplementary concepts

  • Chromosome 21, monosomy 21q22