Partial duplication of distal 17q

J. Bridge, W. Sanger, G. Mosher, B. Buehler, C. Hearty, A. Olney, R. Fordyce

Research output: Contribution to journalArticle

13 Scopus citations

Abstract

A male propositus and an older sister had a similar pattern of congenital anomalies, including facial asymmetry with hypertelorism, frontal bossing and temporal narrowness, a broad nasal bridge, epicanthal folds, a wide mouth with a thin upper lip, micrognathia, webbed neck, low-set posteriorly angulated ears, and an abnormal hairline. There was also postaxial polydactyly, flexion contractures of the digits, hypotonia, and a congenital heart anomaly. The propositus also had renal anomalies whereas the sister did not, and the sister had a cleft lip and palate not present in her brother. The propositus and a subsequent fetus identified through genetic amniocentesis were determined to have a 46,XY,-18,+der(18),t(17;18)(q25.l;q23)mat chromosome constitution. Clinical findings are compared to those of other reported cases of dup(17q).

Original languageEnglish (US)
Pages (from-to)229-235
Number of pages7
JournalAmerican journal of medical genetics
Volume22
Issue number2
DOIs
StatePublished - 1985

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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    Bridge, J., Sanger, W., Mosher, G., Buehler, B., Hearty, C., Olney, A., & Fordyce, R. (1985). Partial duplication of distal 17q. American journal of medical genetics, 22(2), 229-235. https://doi.org/10.1002/ajmg.1320220203