Genetic Counseling Boards Study Guide (Latest Updates)

*Metabolic* MSUD - phenotype {Ans: *Classic* @ irritable @ poor feeding, vomiting, lethargy @ progressive encephalopathy @ coma with respiratory failure *Intermediate* @ milder @ anorexia, poor growth @ irritable @ developmental delay *Intermittant* @ milder @ encephalopathy and metabolic disturbance when under catabolic stress *Diagnosis* @ elevated alloleucine virtually diagnostic @ tandem mass spectrometry @ PAA, UAA}*GI Cancer* Peutz-Jegher syndrome (PJS) {Ans: Hamartomatous Polyp Syndrome STK11 gene, chr. 19 < 100 hamartomatous polyps *small intestine* respiratory tract urinary tract Breast = 54% Colon = 39% Pancreas = 36 % Stomach = 29% Ovarian = 21% Other - sex cord tumors, Sertolli cell tumors blue/black pigment mouth, fingers, toes freckling on the lips}*Teratogens* CMV {Ans: Primary maternal infection: IUGR cerebral calcifications eye hepatosplenomegaly 30-40% risk of fetal infection Secondary maternal infection: hearing loss}*GI Cancer* Familial CRC Type X {Ans: Gene(s) unknown Meet Amsterdam Criteria No MMR mutation or tumor MSI (45%) CRC only Later age of onset Lower rate of second primary}*Prenatal* SMA Carrier Screening {Ans: *ACMG* @ pan-ethnic - offer to all couples *ACOG* @ NOT recommended for the general population @ individuals who request it @ individuals with a family hx}*Neuromuscular Disorders* Causes