Abgc - Study guides, Class notes & Summaries

ABGC Boards Overview Questions and Answers 100% Solved Angelman Syndrome causes (expression and % of total) ️️**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 ️️methylation first since finds ~80% of cases then UBE3A seq and del/dup features: happy demeanor, abnormal gait, seizures, delayed/absent speech Prader-Wil...

ABGC Board Study Genes Questions and Answers 100% Solved congenital adrenal hyperplasia ️️CYP21A2 congenital adrenal hyperplasia ️️CYP17A1 congenital adrenal hyperplasia ️️CYP11B1 22q11.2 deletion syndrome ️️TBX1 achondrogenesis ️️COL2A1 achondroplasia ️️FGFR3 Adelaide (Muenke) ️️FGFR3 ADPKD ️️PKD1 ADPKD ️️PKD2

ABGC Boards: Metabolic Exam Questions and Answers 100% Solved What causes inborn errors of metabolism? ️️Enzyme deficiencies What causes the symptoms of IEMs? ️️1. Accumulation of substrate, or 2. Deficiency of product T/F: Individuals with IEMs usually have dysmorphic features ️️F What is the usual inheritance pattern of IEMs? ️️Recessive T/F: IEMs usually have effective treatment options ️️T Why are IEMs common targets of NBS? ️️Effective, preventive treatments...

ABGC Boards Exam Questions and Answers 100% Solved When a family has multiple individuals in a family have pancreatic cancer, is this more likely to be due to a mutation in BRCA1 or BRCA2? ️️BRCA2 What genes are associated with Noonan syndrome? ️️PTPN11, SOS1, KRAS What heart defects can be seen in Noonan syndrome? ️️Pulmonary valve stenosis and hypertrophic cardiomyopathy Noonan syndrome follows what inheritance pattern? ️️AD What syndrome is associated with dysmorphi...

ABGC Boards – Neuromuscular: Questions & Solutions

ABGC Practice Questions and Answers A woman is seen for genetic counseling because her three year old son was recently diagnosed with Duchene's Muscular Dystrophy. She is feeling very guilty about the diagnosis and the fact that she passed along this disease to her son. Her son's physician has referred her to see a cardiologist on numerous occasions but she has not kept the scheduled appointments. What is the best approach to take with this patient to encourage her to see a cardiolo...

ABGC Boards Final Review 2 – Questions & Answers

ABGC Practice Quiz Questions and Answers 100% Solved A woman is seen for genetic counseling because her three year old son was recently diagnosed with Duchene's Muscular Dystrophy. She is feeling very guilty about the diagnosis and the fact that she passed along this disease to her son. Her son's physician has referred her to see a cardiologist on numerous occasions but she has not kept the scheduled appointments. What is the best approach to take with this patient to encourage her ...

ABGC Practice Quiz Questions And Answers Solved 100% Correct Answers!!