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  • Title: Partial deletion of distal 17q.
    Author: Bridge J, Sanger W, Mosher G, Buehler B, Nelson R, Welsh M, Newland J, Kafka M.
    Journal: Am J Med Genet; 1985 Jun; 21(2):225-9. PubMed ID: 4014309.
    Abstract:
    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.
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