Case Report: Whole exome sequencing helps in accurate molecular diagnosis in siblings with a rare co-occurrence of paternally inherited 22q12 duplication and autosomal recessive non-syndromic ichthyosis.

Published on Jul 31, 2015in F1000Research
· DOI :10.12688/F1000RESEARCH.6779.1
Aayush Gupta5
Estimated H-index: 5
,
Yugal K Sharma8
Estimated H-index: 8
+ 6 AuthorsSridhar Sivasubbu25
Estimated H-index: 25
(Institute of Genomics and Integrative Biology)
Sources
Abstract
Gupta et al. focused on two siblings with ARCI with confirmed TGM1 mutation. In addition they found 22q12 duplication in these siblings and in their father. The title and abstract are both appropriate for the article, and the abstract is a suitable summary. The diagnosis has been sufficiently described, however it is a little bit unclear whether the 22q12 duplication is associated with the ARCI. The authors mention the cat eye syndrome which is related to the duplication of the chromosome 22q12. What about the relevance of this finding? It should be worked out in more detail. I have read this submission. I believe that I have an appropriate level of expertise to confirm that it is of an acceptable scientific standard.
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