{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,11,3]],"date-time":"2026-11-03T20:59:34Z","timestamp":1793739574820,"version":"4.6.1"},"reference-count":23,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2022,12,26]],"date-time":"2022-12-26T00:00:00Z","timestamp":1672012800000},"content-version":"vor","delay-in-days":25,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Current Protocols"],"published-print":{"date-parts":[[2022,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Balanced translocation carriers experience elevated reproductive risks, including pregnancy loss and children with anomalies due to generating chromosomally unbalanced gametes. While understanding the likelihood of producing unbalanced conceptuses is critical for individuals to make reproductive decisions, risk estimates are difficult to obtain as most balanced translocations are unique. To improve reproductive risk estimates, Drs. Trunca and Mendell created models based on a logistic regression analysis of a dataset of over 6000 individuals from over 1000 translocation families. While risk assessments using these models have been offered as a free service for years, this protocol aims to create a sustainable model for genetics professionals to obtain risk estimates for their patients directly. This protocol guides the user through collecting clinical information, using a risk\u2010generating Java program based on the models, and interpreting the program outputs. A practice tutorial is provided to ensure competency in interpretation prior to use. \u00a9 2022 Wiley Periodicals LLC.<\/jats:p><jats:p><jats:bold>Basic Protocol 1<\/jats:bold>: Estimation of reproductive risks for balanced translocation carriers<\/jats:p><jats:p><jats:bold>Basic Protocol 2<\/jats:bold>: Practical examples of typical patient encounters with instructive interpretations<\/jats:p>","DOI":"10.1002\/cpz1.633","type":"journal-article","created":{"date-parts":[[2022,12,26]],"date-time":"2022-12-26T16:05:04Z","timestamp":1672070704000},"source":"Crossref","is-referenced-by-count":6,"title":["Reproductive Risk Estimation Calculator for Balanced Translocation Carriers"],"prefix":"10.1002","volume":"2","author":[{"given":"Carolyn","family":"Trunca","sequence":"first","affiliation":[{"name":"Department of Pathology and Laboratory Medicine, Cell Genetics Division, Cytogenetics North Shore University Hospital  Manhasset New York"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nancy R.","family":"Mendell","sequence":"additional","affiliation":[{"name":"Emerita, Department of Applied Math and Statistics Stony Brook University  Stony Brook New York"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Samantha L.P.","family":"Schilit","sequence":"additional","affiliation":[{"name":"Division of Clinical Cytogenetics, Center for Advanced Molecular Diagnostics, Department of Pathology, Brigham and Women's Hospital Harvard Medical School  Boston Massachusetts"},{"name":"Laboratory for Molecular Medicine Mass General Brigham Personalized Medicine  Cambridge Massachusetts"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2022,12,26]]},"reference":[{"key":"e_1_2_6_2_1_1","doi-asserted-by":"publisher","DOI":"10.1159\/000086901"},{"key":"e_1_2_6_2_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1701\u20102163(16)34570\u20104"},{"key":"e_1_2_6_2_3_1","volume-title":"Discussions in Cytogenetics","author":"Burnham C. 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