Should Know Study Set for ABGC Boards | Q&A Latest Update 2024/2025 | 100% PASS

Should Know Study Set for ABGC Boards | Q&A Latest Update 2024/2025 | 100% PASS Angelman Syndrome causes (expression and % of total) - Answer - **paternal imprinting defect, should be maternal expression 5-7 kb deletion on maternal chr15q11.2-13 (60-70%) UBE3A maternal deletion (11%) Paternal UPD15 (3-7%) Angelman testing strategy and condition features - Answer -methylation first since finds ~80% of cases then UBE3A seq and del/dup features: happy demeanor, abnormal gait, seizures, delayed/absent speech Prader-Willi Syndrome causes (expression and % of total) - Answer - **maternal imprinting defect, should be paternal expression of region 5-6 kb deletion on paternal chr15q11.2-13 (60-70%) Deletion involves SNRPN gene Maternal UPD15 (20-30%)PWS testing strategy and condition features - Answer -Methylation will detect 99% Features: hypotonia, FTT, obesity, hyperphagia, small hands and feet, DD Angelman and Prader-Willi pneumonic devices - Answer -Moms are Angels = should have maternal expression of the region therefore PWS is in a region that typically has paternal express