Summary
The recurrence risks for Down syndrome due to an inherited translocation are estimated from empirical data in the literature for two maternal age groups: mothers under 30 and mothers 30 and over. These risks were found to be approximately 0.3% and 0.05%, respectively. The probability for two Down syndrome sibs both having an inherited translocation was estimated as about 18.2% for the former age group and 2.7% for the latter. The relative effectiveness in preventing Down syndrome births by karyotyping affected children is discussed.
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Lister, T.J., Frota-Pessoa, O. Recurrence risks for down syndrome. Hum Genet 55, 203–208 (1980). https://doi.org/10.1007/BF00291768
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DOI: https://doi.org/10.1007/BF00291768