ABGC Boards Overview Exam With 100% Correct And Verified Answers 2024, Exams of Advanced Education

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ABGC Boards Overview Exam With 100% Correct And Verified Answers 2024 Angelman Syndrome causes (expression and % of total) - Correct 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 - Correct 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) - Correct 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 - Correct Answer-Methylation will detect 99% Features: hypotonia, FTT, obesity, hyperphagia, small hands and feet, DD Angelman and Prader-Willi pneumonic devices - Correct Answer-Moms are Angels = should have maternal expression of the region therefore PWS is in a region that typically has paternal expression Beckwith-Wiedemann syndrome causes (imprinting and % breakdown) - Correct Answer-**paternal imprinting, maternally expressed Sporadic (85%) Loss of methylation on maternal chr11p15.5 IC2 (50%) Paternal UPD11 (7-10%) Gain of methylation on maternal chr11p15.5 IC1 (5%) Maternal CDKN1C deletion (40% w/ family hx, 5% w/o) also KCNQ1 gene Beckwith-Wiedemann syndrome testing strategy and condition features - Correct Answer-Order methylation first, then CDKN1C sequencing and del/dup Features: overgrowth, macroglossia, omphalocele, ear pits, Wilms tumor Russell-Silver syndrome causes (imprinting and % breakdown) - Correct Answer- *maternal imprinting, paternal expression Loss of methylation on paternal chr11p15.5 IC1 (35-50%) Maternal UPD7 (10%) Russell-Silver testing strategy and condition features - Correct Answer-Order methylation first, then UPD studies Features: triangular facies, IUGR, poor post-natal growth, short stature, body asymmetry causes and implications of cystic placenta - Correct Answer-Partial molar pregnancy- triploidy Triploidy is incompatible with life High risk First trimester screen for T21 values (high or low) - Correct Answer-high hCG, low PAPP-A (know what MoM curve looks like for all screen results too) High risk First trimester screen for T18 values (high or low) - Correct Answer-low hCG, low PAPP-A High risk Second trimester screen for T21 values (high or low) - Correct Answer-high hCG, high inhibin-A, low AFP, low uE3 High risk Second trimester screen for T18 values (high or low) - Correct Answer-low hCG, low AFP, low uE3 Genotype of Partial mole? - Correct Answer-triploidy (digyny- 69, XXX or diandry- 69 XXY) Genotype of complete hydatidiform mole? - Correct Answer-paternal UPD of all chromosomes Genotype of ovarian teratoma? - Correct Answer-maternal UPD of all chromosomes Testing strategy/what will be found for cystic fibrosis dx - Correct Answer-Elevated trypsinogen on NBS followed by genetic mutation analysis (most NBS is genotyping) **Gold standard: Confirm w/ sweat test elevated >60 u/L 17p microduplication key gene and features - Correct Answer-(CMT) PMP22 gene, foot drop, toe walking, hammertoe foot, neuropathy 22q11 deletion syndromes - Correct Answer-(DiGeorge) missing 3rd and 4th pharyngeal pouches Cleft palate Abnormal facies Thymic aplasia (immune deficiencies!!!) Cardiac defects Hypocalcemia (parathyroid aplasia) Denial - Correct Answer-Defense mechanism by which people refuse to accept reality. repression - Correct Answer-Defense mechanism by which anxiety-provoking thoughts and feelings are forced to the unconscious. painful stuff is so upsetting you avoid entirely projection - Correct Answer-psychoanalytic defense mechanism by which people disguise their own threatening impulses by attributing them to others displacement - Correct Answer-psychoanalytic defense mechanism where someone takes out emotions on someone who doesn't deserve it regression - Correct Answer-return to an earlier or less advanced condition after traumatic event rationalization - Correct Answer-defense mechanism that offers self-justifying explanations in place of the real, more threatening, unconscious reasons for one's actions to feel better sublimation - Correct Answer-channeling socially unacceptable impulses and urges into socially acceptable behavior (channeling emotions in positive way) compartmentalization - Correct Answer-defense mechanism where one separates different parts of their life intellectualization - Correct Answer-a coping mechanism in which the person analyzes a situation from an emotionally detached viewpoint - just the facts best response to someone having extreme reactions - Correct Answer-Inquire about emotional reaction- "tell me more" most important thing to do when someone doesn't understand a diagnosis? - Correct Answer-ask them what they've been told about it most important thing to do when someone says "I did everything right"? - Correct Answer-validate and reflect what is first response when patient says "The baby has a heart defect because I'm stressed"? - Correct Answer-reflect - probably guilt (not shame) whats most important/first thing to say when someone can't play sports due to their condition? - Correct Answer-Ask what is most valuable about the sport and try to explore other options for finding that value elsewhere MELAS inheritance pattern - Correct Answer-mito marfan inheritance pattern - Correct Answer-AD OI inheritance pattern - Correct Answer-AD Morquio inheritance patter - Correct Answer-AR MUTYH inheritance pattern - Correct Answer-AR hemochromatosis inheritance pattern - Correct Answer-AR leber hereditary optic neuropathy (LHON) inheritance? - Correct Answer-mitochondrial Zellweger syndrome inheritance and gene - Correct Answer-AR PEX gene Zellweger syndrome category and key features (biochem and physical) - Correct Answer-peroxisomal disorder Elevated VLCFA Rhizomelic chondroplasia punctata is pathognomonic sensitivity definition - Correct Answer-# of affected people correctly identified as affected specificity definition - Correct Answer-# of unaffected people correctly identified as unaffected PPV definition - Correct Answer-probability that subjects with a positive screening test truly have the disease NPV definition - Correct Answer-probability that subjects with a negative screening test truly don't have the disease how to calculate PPV - Correct Answer-true positives/total test positives (true positives + false positives) how to calculate NPV - Correct Answer-true negatives/total test negatives (true negatives + false negatives) how to calculate sensitivity - Correct Answer-true positives/total actual positives (true positives + false negatives) how to calculate specificity - Correct Answer-true negatives/total actual negatives (true negatives + false positives) GINA coverage/exemptions - Correct Answer--Protects from discrimination for health insurance and employment only -Does not protect already symptomatic people with genetic mutation -Does not protect against life insurance, long-term disability, military, employers with <15 employees What to do if you don't have a consent form in a certain language - Correct Answer- consent info must be presented in language patient understands, can be presented orally by interpreter if you do not have consent on paper, interpreter must sign consent as witness who must consent to any testing/research? - Correct Answer-the patient (or research subject) Do you need permission/consent to send records if you refer to another specialty for continuation of care? - Correct Answer-no What is a needs assessment and how is best done? - Correct Answer-Needs assessments are designed to identify gaps between what is known and what is not, for eliminating assumptions about why something is not going correctly - good to do interviews/focus groups Holt Oram (inheritance, gene, and key features) - Correct Answer-AD TBX5 limb anomalies and heart defects Cornelia de Lange (inheritance, gene, and key features) - Correct Answer-AD NIPBL hirsutism, synophrys, limb defects, cleft palate Apert (inheritance, gene, and key features) - Correct Answer-AD FGFR2 mitten syndactyly, developmental delay, craniosynostosis hypoketotic hypoglycemia, liver problems, MCT oil for tx, avoid fasting, sometimes asymptomatic until adulthood Maple Syrup Urine Disease (MSUD) - Correct Answer-AR (aminoacidopathy) *3 genes elevated branched chain amino acids—leucine, isoleucine, valine, sweet urine smell, liver problems OTC deficiency - Correct Answer-X-linked urea cycle disorder vomitting, seizures, hypotonia high ammonia (CHECK FOR HYPERAMMONIA IN MOM) respiratory alkalosis poor feeding can be activated by extreme stress in adult onset cerebral edema, papilledema, lethargy, coma *liver transplant Long QT (inheritance, gene, treatment) - Correct Answer-KCNQ1 gene, AD **unless Jervell-Lange Nielsen (AR + hearing loss), avoid exercise DMD/BMD (genetics, risks, inheritance) - Correct Answer-DMD gene (DMD is out-of- frame and BMD is in-frame), XL, mothers of isolated cases have 2/3 chance of being carriers, risk for DCM, chance for germline mosaicism SMA (inheritance, gene, type differences) - Correct Answer-SMN1 gene, AR, 2% chance to be cis-deletion carrier, anterior horn cell problem, proximal muscle weakness, type I is more severe than type II, most common genetic cause of infant death Van Der Woude (gene, inheritance, key features) - Correct Answer-IRF6 gene, AD, lip pits, cleft palate Peutz Jeghers (gene, inheritance, key features) - Correct Answer-AD STK11 gene mucocutaneous pigmentation Noonan (gene, inheritance, key features) - Correct Answer-AD PTPN211 multi-gene sequencing to test, pulmonic stenosis, bleeding Turner (cause and key features) - Correct Answer-monosomy X, coarctation of the aorta, short stature, increased risk gonadoblastoma (if have some Y chromosome material) Fanconi anemia - Correct Answer-AR (tons of genes) DEB chromosome breakage studies for testing (and panel I'm assuming?) Treacher collins (inheritance, gene, key feature) - Correct Answer-AD TCOF1 gene malar hypoplasia Meckel Gruber (inheritance, key feature) - Correct Answer-AR polycystic kidneys, encephalocele Pompe disease key feature - Correct Answer-death by cardiomyopathy or respiratory distress Fabry inheritance and key features - Correct Answer-X-linked pain in hands/feet aneuploidy RR (Turner's specifically) - Correct Answer-no RR for Turners otherwise RR is ~1% + age related risks for other aneuploidies thanatophoric dysplasia (inheritance, gene, % de novo, features) - Correct Answer-AD **all de novo FGFR3 gene Features: hydrocephalus, cloverleaf skull, rib anomalies treatment for CAH - Correct Answer-Hydrocortisone (steroids) or glucocorticoid therapy replacement MEN1 cancers - Correct Answer-parathyroid, pituitary, pancreatic + hyperparathyroidism MEN2 cancers - Correct Answer-medullary thyroid, pheochromocytoma, parathyroid SDHC cancers *SDHD - Correct Answer-pheochromocytoma, paraganglioma Only at risk to develop cancer if inherited from dad due to paternal imprinting effect NF1 clinical criteria - Correct Answer-6 CALS >5mm Lisch nodules Optic glioma Neurofibromas/plexiform neurofibroma Axillary/inguinal freckling Sphenoid dysplasia FDR w/ NF1 mutation retinoid (accutane) teratogenic effect - Correct Answer-limb, thymus, CNS, eye, heart abnormalities Carbamazepine/valproic acid (seizure medications) teratogenic effect - Correct Answer- NTD (myelomeningocele) is acetomenaphin ok in pregnancy? - Correct Answer-yes diabetes teratogenic effect - Correct Answer-Measured by Hemoglobin A1C, higher risk for NTD if >6.5% Teratogenic effect is caudal regression viruses associated with echogenic bowel - Correct Answer-CMV and toxoplasmosis locus heterogeneity - Correct Answer-a single disorder, trait, or pattern of traits caused by mutations in genes at different chromosomal loci allelic heterogeneity - Correct Answer-A single disorder, trait, or pattern of traits caused by different mutations within a single gene Phenotypic heterogeneity - Correct Answer-Mutations in the same gene result in different phenotypes corneal clouding is associated with which type of MPS? - Correct Answer-type I what should be done if the AFP level on serum screening is really high? - Correct Answer-test mother's liver what percentage of first trimester miscarriages are due to aneuploidy? - Correct Answer-50% which repeat disorder is the only one with paternal anticipation? - Correct Answer-HD (all others are maternal) carrier frequencies of AJ conditions - Correct Answer-CF (1/24), Tay-Sachs (1/30), Gaucher (1/14), Familial Dysautonomia (1/35) are people in prison excluded from IRB? - Correct Answer-yes