A microdeletion 22q11.2 can resemble Shprintzen-Goldberg omphalocele syndrome

Am J Med Genet A. 2006 Dec 15;140(24):2838-9. doi: 10.1002/ajmg.a.31534.
No abstract available

Publication types

  • Case Reports
  • Comment
  • Letter

MeSH terms

  • Abnormalities, Multiple / genetics
  • Child, Preschool
  • Chromosome Deletion*
  • Chromosomes, Human, Pair 22 / genetics*
  • Craniofacial Abnormalities / genetics
  • Hernia, Umbilical / genetics*
  • Humans
  • Larynx / abnormalities
  • Male
  • Pharynx / abnormalities
  • Phenotype
  • Scoliosis / genetics
  • Syndrome