Partial trisomy 21: A fifty-year follow-up visit

Academic Article


  • We describe a clinical encounter with family members that carry a balanced translocation involving chromosomes 15 and 21 roughly 50years after the proband was diagnosed with partial trisomy 21 due to an unbalanced translocation. We discuss how these chromosomal rearrangements have impacted the lives of these individuals, and how they responded to revisiting their diagnoses after using updated cytogenetic techniques including high resolution chromosome banding and array comparative genomic hybridization.
  • Digital Object Identifier (doi)

    Author List

  • Hamm JA; Carroll AJ; Mikhail FM; Korf BR; Finley WH
  • Start Page

  • 1610
  • End Page

  • 1613
  • Volume

  • 167
  • Issue

  • 7