Deletion Extents Are Not the Cause of Clinical Variability in 22q11.2 Deletion Syndrome: Does the Interaction between DGCR8 and miRNA-CNVs Play a Major Role?

Deletion Extents Are Not the Cause of Clinical Variability in 22q11.2 Deletion Syndrome: Does the Interaction between DGCR8 and miRNA-CNVs Play a Major Role?

In humans, the most common genomic disorder is the hemizygous deletion of the chromosome 22q11.2 region, that results in the “22q11.2 deletion syndrome” (22q11.2DS). A peculiarity of 22q11.2DS is its great phenotypic variability that makes this pathology a classic example of a syndrome with variable...

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Bibliographic Details
Main Authors: Angelo Valetto, Veronica Bertini, Alessia Azzarà, Annalisa Legitimo, Roberta Milone, Roberta Battini, Rita Consolini
Format: Article
Language:English
Published: Frontiers Media S.A. 2017-05-01
Series:Frontiers in Genetics
Subjects:
22q11 deletion syndrome
array CGH
copy number variations
miRNA
CNV-miRNA
DGCR8
Online Access:http://journal.frontiersin.org/article/10.3389/fgene.2017.00047/full

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http://journal.frontiersin.org/article/10.3389/fgene.2017.00047/full

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