Oculoauriculovertebral anomaly

Segregation analysis

C. I. Kaye, A. O. Martin, B. R. Rollnick, K. Nagatoshi, J. Israel, M. Hermanoff, B. Tropea, Joan Therese Richtsmeier, N. E. Morton

Research output: Contribution to journalArticle

57 Citations (Scopus)

Abstract

Seventy-four families of probands with oculoauriculovertebral anomaly were evaluated, including 116 parents and 195 offspring. Relatives were examined to identify ear malformations, mandibular anomalies, and other craniofacial abnormalities. For segregation analysis using POINTER, selection of the sample was consistent with single ascertainment. Different population liabilities were used for probands and relatives, because affection was narrowly defined for probands and broadly defined for relatives. The hypothesis of no genetic transmission was rejected. The evidence favored autosomal dominant inheritance; recessive and polygenic models were not distinguishable.

Original languageEnglish (US)
Pages (from-to)913-917
Number of pages5
JournalAmerican Journal of Medical Genetics
Volume43
Issue number6
DOIs
StatePublished - Aug 19 1992

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Craniofacial Abnormalities
Ear
Population

All Science Journal Classification (ASJC) codes

  • Genetics
  • Genetics(clinical)

Cite this

Kaye, C. I., Martin, A. O., Rollnick, B. R., Nagatoshi, K., Israel, J., Hermanoff, M., ... Morton, N. E. (1992). Oculoauriculovertebral anomaly: Segregation analysis. American Journal of Medical Genetics, 43(6), 913-917. https://doi.org/10.1002/ajmg.1320430602
Kaye, C. I. ; Martin, A. O. ; Rollnick, B. R. ; Nagatoshi, K. ; Israel, J. ; Hermanoff, M. ; Tropea, B. ; Richtsmeier, Joan Therese ; Morton, N. E. / Oculoauriculovertebral anomaly : Segregation analysis. In: American Journal of Medical Genetics. 1992 ; Vol. 43, No. 6. pp. 913-917.
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Kaye, CI, Martin, AO, Rollnick, BR, Nagatoshi, K, Israel, J, Hermanoff, M, Tropea, B, Richtsmeier, JT & Morton, NE 1992, 'Oculoauriculovertebral anomaly: Segregation analysis', American Journal of Medical Genetics, vol. 43, no. 6, pp. 913-917. https://doi.org/10.1002/ajmg.1320430602

Oculoauriculovertebral anomaly : Segregation analysis. / Kaye, C. I.; Martin, A. O.; Rollnick, B. R.; Nagatoshi, K.; Israel, J.; Hermanoff, M.; Tropea, B.; Richtsmeier, Joan Therese; Morton, N. E.

In: American Journal of Medical Genetics, Vol. 43, No. 6, 19.08.1992, p. 913-917.

Research output: Contribution to journalArticle

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AU - Kaye, C. I.

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AU - Israel, J.

AU - Hermanoff, M.

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AU - Richtsmeier, Joan Therese

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Kaye CI, Martin AO, Rollnick BR, Nagatoshi K, Israel J, Hermanoff M et al. Oculoauriculovertebral anomaly: Segregation analysis. American Journal of Medical Genetics. 1992 Aug 19;43(6):913-917. https://doi.org/10.1002/ajmg.1320430602