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Partial trisomy 21: A fifty‐year follow‐up visit
Author(s) -
Hamm J. Austin,
Carroll Andrew J.,
Mikhail Fady M.,
Korf Bruce R.,
Finley Wayne H.
Publication year - 2015
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.37031
Subject(s) - partial trisomy , chromosomal translocation , proband , comparative genomic hybridization , trisomy , genetics , biology , karyotype , chromosome analysis , chromosome , medical diagnosis , computational biology , medicine , pathology , gene , mutation
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. © 2015 Wiley Periodicals, Inc.