Article
The first patient with tandem duplication of 6q14q16: Molecular and phenotypic characterization.
American journal of medical genetics. Part A - 1 Sept 2016
Sanmann Jennifer N, Casas Kari A, Bevilacqua Jen, Bishay Danielle L, Clark Tanner, Van Dyke A Zephyr, Leiferman Patricia Crotwell, Reddi Honey V, Starr Lois J
Abstract excerpt
Duplications of the long arm of chromosome 6 have been previously reported in a limited number of patients; however, most reported duplications encompass regions of chromosome 6 distal to band q21. Duplications restricted to the proximal portion of 6q are rare. We report an 8-year-old male with a 16.4 megabase (Mb) tandem duplication of chromosome 6q14.1q16.1 (chr6:78950191-95395865; hg19) who exhibited...
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