Article
Microduplication 22q11.2, an emerging syndrome: clinical, cytogenetic, and molecular analysis of thirteen patients.
American journal of human genetics - 1 Nov 2003
Ensenauer Regina E, Adeyinka Adewale, Flynn Heather C, Michels Virginia V, Lindor Noralane M, Dawson D Brian, Thorland Erik C, Lorentz Cindy Pham, Goldstein Jennifer L, McDonald Marie T, Smith Wendy E, Simon-Fayard Elba, Alexander Alan A, Kulharya Anita S, Ketterling Rhett P, Clark Robin D, Jalal Syed M
Abstract excerpt
Chromosome 22, particularly band 22q11.2, is predisposed to rearrangements due to misalignments of low-copy repeats (LCRs). DiGeorge/velocardiofacial syndrome (DG/VCFS) is a common disorder resulting from microdeletion within the same band. Although both deletion and duplication are expected to occur in equal proportions as reciprocal events caused by LCR-mediated rearrangements, very few microduplications have...
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