Translocation Down Syndrome and Implications in Genetic Counseling

Down Syndrome has three types based on cytogenetic analysis: full trisomy 21, mosaic, and translocation. While Down Syndrome can be diagnosed clinically, cytogenetic analysis is recommended to ascertain the type of Down Syndrome because this has implications in the recurrence risk. In this paper by Padilla et al, they expounded on the cytogenetics of translocation Down Syndrome and how this can affect the approach in genetic counseling.