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The first patient with a pure 1p36 microtriplication associated with severe clinical phenotypes

2 Oct 2014

Abstract excerpt

BACKGROUND: Copy Number Variants (CNVs) is a new molecular frontier in clinical genetics. CNVs in 1p36 are usually pathogenic and have attracted the attention of cytogeneticists worldwide. None of 1p36 triplication has been reported thus far. RESULTS: We present three patients with CNVs in 1p36. Among them one is the first 1p36 tetrasomy due to a pure microtriplication and the other two are 1p36 microdeletion....

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PMID: 25324898
DOI: 10.1186/s13039-014-0064-9

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