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Segregation Analysis of A Large t(21q22q) Family
  1. C. J. Chapman,
  2. R. J. M. Gardner,
  3. A. M. O. Veale
  1. Human Genetics Research Unit‡ of the New Zealand Medical Research Council, University of Otago Medical School, Dunedin, New Zealand


    A large family in which a t(21q22q) chromosome is segregating is described. Segregation analysis using data from this family and previously published families shows the risk to a female carrier of having a child with translocation Down's syndrome to be 0·0684±0·0270. The risk to a male carrier is probably much smaller with an upper limit of 0·0286. The segregation ratio for phenotypically normal offspring of carrier parents of both sexes is 0·5053±0·0524.

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    • MRC Training Fellow.

    • Now the Division of Human Genetics, Department of Community Health, University of Auckland Medical School, Auckland, New Zealand.