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 Citations (Scopus)

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 - Dec 1 1985

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Micrognathism
Facial Asymmetry
Hypertelorism
Muscle Hypotonia
Amniocentesis
Cleft Lip
Constitution and Bylaws
Cleft Palate
Contracture
Lip
Nose
Ear
Mouth
Fetus
Neck
Chromosomes
Kidney
Trisomy 17q22 Chromosome 17
Postaxial Polydactyly

ASJC Scopus subject areas

  • Genetics(clinical)

Cite this

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

Partial duplication of distal 17q. / Bridge, J.; Sanger, W.; Mosher, G.; Buehler, B.; Hearty, C.; Olney, A.; Fordyce, R.

In: American Journal of Medical Genetics, Vol. 22, No. 2, 01.12.1985, p. 229-235.

Research output: Contribution to journalArticle

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, vol. 22, no. 2, pp. 229-235. https://doi.org/10.1002/ajmg.1320220203
Bridge J, Sanger W, Mosher G, Buehler B, Hearty C, Olney A et al. Partial duplication of distal 17q. American Journal of Medical Genetics. 1985 Dec 1;22(2):229-235. https://doi.org/10.1002/ajmg.1320220203
Bridge, J. ; Sanger, W. ; Mosher, G. ; Buehler, B. ; Hearty, C. ; Olney, A. ; Fordyce, R. / Partial duplication of distal 17q. In: American Journal of Medical Genetics. 1985 ; Vol. 22, No. 2. pp. 229-235.
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