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 Citations (Scopus)

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

Fingerprint

Micrognathism
Arachnodactyly
Coxa Vara
Hypertelorism
Microcephaly
Nipples
Thumb
Nose
Ear
Mothers
Chromosome 17 ring

ASJC Scopus subject areas

  • Genetics(clinical)

Cite this

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

Partial deletion of distal 17q. / Bridge, J.; Sanger, W.; Mosher, G.; Buehler, B.; Nelson, R.; Welsh, M.; Newland, J.; Kafka, M.

In: American journal of medical genetics, Vol. 21, No. 2, 16.10.1985, p. 225-229.

Research output: Contribution to journalArticle

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, vol. 21, no. 2, pp. 225-229. https://doi.org/10.1002/ajmg.1320210204
Bridge J, Sanger W, Mosher G, Buehler B, Nelson R, Welsh M et al. Partial deletion of distal 17q. American journal of medical genetics. 1985 Oct 16;21(2):225-229. https://doi.org/10.1002/ajmg.1320210204
Bridge, J. ; Sanger, W. ; Mosher, G. ; Buehler, B. ; Nelson, R. ; Welsh, M. ; Newland, J. ; Kafka, M. / Partial deletion of distal 17q. In: American journal of medical genetics. 1985 ; Vol. 21, No. 2. pp. 225-229.
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