Partial deletion of distal 17q

J. Bridge, W. Sanger, G. Mosher, B. Buehler, R. Nelson, M. Welsh, J. Newland, M. Kafka

Research output: Contribution to journalArticle

7 Scopus citations

Abstract

A new born 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.

Original languageEnglish (US)
Pages (from-to)225-229
Number of pages5
JournalAmerican journal of medical genetics
Volume21
Issue number2
DOIs
StatePublished - Oct 16 1985

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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    Bridge, J., Sanger, W., Mosher, G., Buehler, B., Nelson, R., Welsh, M., Newland, J., & Kafka, M. (1985). Partial deletion of distal 17q. American journal of medical genetics, 21(2), 225-229. https://doi.org/10.1002/ajmg.1320210204