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Oculoauriculovertebral anomaly: Segregation analysis
Authors:Celia I. Kaye  Alice O. Martin  Beverly R. Rollnick  R. Rollnick  Konrad Nagatoshi  Jeannette Israel  Mark Hermanoff  Brad Tropea  Joan T. Richtsmeier  Newton E. Morton
Abstract:Seventy-four families of probands with oculoauriculovertebral anomaly were evaluated, including 116 parents and 195 off-spring. 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 as-certainment. 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. © 1992 Wiley-Liss, Inc.
Keywords:hemifacial microsomia  Goldenhar syndrome  microtia
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