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.
Aayush Gupta5 , Yugal K Sharma8 + 6 AuthorsSridhar Sivasubbu25 (Institute of Genomics and Integrative Biology)
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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.
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