Unusual four-generation chromosome-22 rearrangement: when "normality" masks abnormality

Am J Med Genet A. 2009 Jul;149A(7):1561-4. doi: 10.1002/ajmg.a.32892.
No abstract available

Publication types

  • Case Reports
  • Letter
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Chromosome Aberrations*
  • Chromosomes, Human, Pair 22*
  • DiGeorge Syndrome / diagnosis*
  • DiGeorge Syndrome / genetics
  • Diagnosis, Differential
  • Family
  • Family Characteristics*
  • Female
  • Humans
  • Karyotyping
  • Male
  • Pedigree
  • Phenotype
  • Pregnancy
  • Prenatal Diagnosis