AI Article Synopsis
- - The text discusses a genetic condition linked to deletions in the 6q21-22 region, previously noted in 11 individuals with symptoms like intellectual disability, facial features, heart issues, and brain abnormalities.
- - This report introduces a new case of a patient with a 6q21-22 deletion who also has an interrupted aortic arch, adding to the list of associated symptoms.
- - Genetic analysis revealed a specific 13.3-Mb deletion in the 6q21-q22.31 region, providing further insight into the genetic basis of these clinical features.
Article Abstract
Interstitial deletion of 6q21-22 has been previously reported in 11 individuals, who presented with intellectual disability, facial dysmorphism, cardiac abnormality, cerebellar hypoplasia and dysplasia of the corpus callosum. Here, we report the first instance of a patient with 6q21-22 deletion presenting with interrupted aortic arch in addition to the previously described clinical signs. Array analysis using Agilent Human genome CGH 180K identified a 13.3-Mb deletion at 6q21-q22.31 (nt. 109885195-123209593).
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Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4785536 | PMC |
| http://dx.doi.org/10.1038/hgv.2015.15 | DOI Listing |
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