Article
Microduplication of 4p16.3 due to an unbalanced translocation resulting in a mild phenotype.
American journal of medical genetics. Part A - 1 Apr 2011
Carmany Erin P, Bawle Erawati V
Abstract excerpt
With the widespread clinical use of comparative genomic hybridization chromosomal microarray technology, several previously unidentified clinically significant submicroscopic chromosome abnormalities have been discovered. Specifically, there have been reports of clinically significant microduplications found in regions of known microdeletion syndromes. In general, these microduplications have distinct features...
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