Chromosomal translocation disrupting the SMAD4 gene resulting in the combined phenotype of Juvenile polyposis syndrome and Hereditary Hemorrhagic Telangiectasia

DiscussionA disease ‐causing reciprocal translocation between chromosome 1 and 18 with a breakpoint in theSMAD4 locus co ‐segregated with JP‐HHT in an extended family. This observation warrants further analysis for chromosomal rearrangements in individuals with clinical HHT or JP‐HHT of unknown cause.

Source: Molecular Genetics & Genomic Medicine - October 15, 2020 Category: Genetics & Stem Cells Authors: Katrine S. Aagaard, Klaus Brusgaard, Ieva Miceikaite, Martin J. Larsen, Anette D. Kjeldsen, Emilie B. Lester, Lilian B. Ousager, Pernille M. T ørring Tags: CLINICAL REPORT Source Type: research