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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 

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Partial deletion of distal 17q.

A newborn female was found to have a deletion of the terminal portion of 17q. Prominent manifestations included microcephaly, apparent hypertelorism, epicanthic folds, a broad nasal bridge with anteverted nostrils, posteriorly angulated ears, micrognathia, widely spaced nipples, arachnodactyly with proximal thumbs, and a coxa vara deformity. The unbalanced translocation was inherited from the mother, who had a reciprocal translocation involving the terminal portions of 2p and 17q. To the best of our knowledge, this is the first report of a liveborn infant with deletion of the distal portion of 17q with the exception of reports of patients with ring chromosome 17.[1]

References

  1. Partial deletion of distal 17q. Bridge, J., Sanger, W., Mosher, G., Buehler, B., Nelson, R., Welsh, M., Newland, J., Kafka, M. Am. J. Med. Genet. (1985) [Pubmed]
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