This website is devoted to helping medical genetics professionals provide appropriate reproductive risk estimates to individuals who carry an apparently balanced reciprocal translocation. Carolyn Trunca, PhD, FACMG, who has provided translocation risk estimates as a free clinical service, is now retired. In an effort to make this resource available indefinitely, a protocol was published in Current Protocols in Human Genetics in 2022 (Trunca, Mendell, & Schilit, 2022). The protocol guides medical genetics professionals through collecting clinical information, using a risk-generating Java–based calculator, and interpreting the calculator outputs in order to obtain risk estimates for their patients.
An updated protocol (Trunca, Mendell, & Schilit, 2025?) is now available that introduces a web-based version of the reproductive risk calculator:
https://www.translocationriskscalculator.info/calc
This version does not require Java and can be used on mobile devices as well as computers, increasing its accessibility. As an additional feature, maternal age can be entered into the calculator to generate age-related miscarriage risk. This new feature is intended to reduce errors that might occur if calculating this risk manually. The updated protocol also includes additional practice problems involving scenarios that a medical geneticist might encounter during a risk assessment. Successful completion of the tutorial is required to ensure proper input of values into either version of the calculator and correct interpretation of risk outputs.
Access Translocation Risks Calculator Here: Calculate
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