title: Partial trisomy 21: a fifty-year follow-up visit.
abstract: We describe a clinical encounter with family members that carry a balanced translocation involving chromosomes 15 and 21 roughly 50 years 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.
authors.affiliation: Department of Genetics at the University of Alabama at Birmingham, Birmingham, Alabama.
authors.forename: J Austin
authors.initials: JA
authors.lastname: Hamm
authors.affiliation: Department of Genetics at the University of Alabama at Birmingham, Birmingham, Alabama.
authors.forename: Andrew J
authors.initials: AJ
authors.lastname: Carroll
authors.affiliation: Department of Genetics at the University of Alabama at Birmingham, Birmingham, Alabama.
authors.forename: Fady M
authors.initials: FM
authors.lastname: Mikhail
authors.affiliation: Department of Genetics at the University of Alabama at Birmingham, Birmingham, Alabama.
authors.forename: Bruce R
authors.initials: BR
authors.lastname: Korf
authors.affiliation: Department of Genetics at the University of Alabama at Birmingham, Birmingham, Alabama.
authors.forename: Wayne H
authors.initials: WH
authors.lastname: Finley
mesh_terms: D002884:Chromosomes, Human, Pair 15 / Q000235:genetics*; D020732:Cytogenetic Analysis; D004314:Down Syndrome / Q000235:genetics / Q000473:pathology* / Q000523:psychology; D005190:Family / Q000523:psychology*; D005500:Follow-Up Studies; D006801:Humans; D010641:Phenotype; D014178:Translocation, Genetic / Q000235:genetics*
keywords: array comparative genomic hybridization; balanced translocation; history of genetic testing; trisomy 21