Oculoauriculovertebral anomaly: Segregation analysis

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

Research output: Contribution to journalArticle

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 - 1992
Externally publishedYes

Keywords

  • Goldenhar syndrome
  • hemifacial microsomia
  • microtia

ASJC Scopus subject areas

  • Genetics(clinical)

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  • Cite this

    Kaye, C. I., Martin, A. O., Rollnick, B. R., Nagatoshi, K., Israel, J., Hermanoff, M., Tropea, B., Richtsmeier, J. T., & Morton, N. E. (1992). Oculoauriculovertebral anomaly: Segregation analysis. American Journal of Medical Genetics, 43(6), 913-917. https://doi.org/10.1002/ajmg.1320430602