Segregation analysis of a translocation (16;21)(p11;q22) in a large pedigree |
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| Authors: | J. P. M. Geraedts N. J. Leschot H. Veenema |
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| Affiliation: | Departments of Genetics and Cell Biology, University of Limburg, Maastricht;Departments of Human Genetics, University of Amsterdam, Amsterdam;Departments of Human Genetics, University of Leiden, Leiden, The Netherlands |
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| Abstract: | A large family with an inherited reciprocal translocation (16;21) is described. An unbalanced karyotype due to adjacent-1 segregation was documented in 6 cases, whereas 25 children dying within the first year of life and 4 individuals dying at later ages probably had the same abnormality. Therefore minimal and maximal risk estimates were calculated to be 6.0% and 26.5% for female, respectively, 4.8% and 33.3% for male translocation heterozygotes. Among the karyotyped phenotypically normal offspring of male as well as female carriers the ratio of normal children to balanced carriers was not different from 1:1. |
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| Keywords: | Chromosome translocation segregation analysis |
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