ABGC Exam Prep 2024 (Possible questions with 100% correct answers) Official Example Questions from ABGC Cert Exam (100% Verified) ABGC Boards - Final Review 2024 (100% Verified with correct answers) Combo with ABGC Boards and 12 others (Possible questions with 100% correct answers)
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Osteogenesis imperfecta correct answers Genes: COL1A1 (ch17; more severe pheno w/mutn b/c there are 2 alpha strands vs. 1 beta strand), COL1A2 (ch7), form protein triple helix Type I -- AD, mild, blue sclera, brittle bones, no deformity collagen: normal quality, AMOUNT is reduced Type II: AD, neo...
Voorbeeld 1 van de 4 pagina's
In winkelwagenOsteogenesis imperfecta correct answers Genes: COL1A1 (ch17; more severe pheno w/mutn b/c there are 2 alpha strands vs. 1 beta strand), COL1A2 (ch7), form protein triple helix Type I -- AD, mild, blue sclera, brittle bones, no deformity collagen: normal quality, AMOUNT is reduced Type II: AD, neo...
Advanced Empathy correct answers Used to go below the surface of a conversation Reflection of things not directly stated Includes reframing and interpretation confrontation correct answers Asking the client to see things differently Use it for the client's advantage Rogerian Counseling: P...
Voorbeeld 3 van de 29 pagina's
In winkelwagenAdvanced Empathy correct answers Used to go below the surface of a conversation Reflection of things not directly stated Includes reframing and interpretation confrontation correct answers Asking the client to see things differently Use it for the client's advantage Rogerian Counseling: P...
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 n...
Voorbeeld 2 van de 11 pagina's
In winkelwagenA 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 n...
T13 correct answers Nondisjunction; 1 in 12,000 SGA, MCA: hypotelorism, CLP, heart, brain and kidney defects RR is 1% T18 correct answers Nondisjunction; 1 in 6,000 SGA, MCA: prominent occiput, tightly clenched fingers, heart and brain defects Choroid plexus cyst on u/s RR is 1% T21 corre...
Voorbeeld 3 van de 23 pagina's
In winkelwagenT13 correct answers Nondisjunction; 1 in 12,000 SGA, MCA: hypotelorism, CLP, heart, brain and kidney defects RR is 1% T18 correct answers Nondisjunction; 1 in 6,000 SGA, MCA: prominent occiput, tightly clenched fingers, heart and brain defects Choroid plexus cyst on u/s RR is 1% T21 corre...
What are the 3 tenets of person-centred counselling? correct answers 1) Respect 2) Genuineness 3) Empathy What is respect in genetic counselling? correct answers Acceptance of patient What is genuineness in genetic counselling? correct answers Being yourself within the capacity of being a ge...
Voorbeeld 1 van de 4 pagina's
In winkelwagenWhat are the 3 tenets of person-centred counselling? correct answers 1) Respect 2) Genuineness 3) Empathy What is respect in genetic counselling? correct answers Acceptance of patient What is genuineness in genetic counselling? correct answers Being yourself within the capacity of being a ge...
Holt-Oram Syndrome correct answers TBX5, AD, high penetrance, 1/3 de novo Upper limb defects (preaxial radial ray anomaly: radial, carpal and ulnar bones), congenital heart malformation (mostly Secundum atrial septal defect) and conduction disease. Refer to cardio, orthopedist, hand surgeon. He...
Voorbeeld 2 van de 15 pagina's
In winkelwagenHolt-Oram Syndrome correct answers TBX5, AD, high penetrance, 1/3 de novo Upper limb defects (preaxial radial ray anomaly: radial, carpal and ulnar bones), congenital heart malformation (mostly Secundum atrial septal defect) and conduction disease. Refer to cardio, orthopedist, hand surgeon. He...
1. Which of the following features identified by fetal ultrasound is MORE commonly associated with trisomy 18 than with trisomy 21? A. nuchal thickening B. duodenal atresia C. echogenic bowel D. choroid plexus cyst correct answers D 2. A 20-year-old man and his family are seen for genetic...
Voorbeeld 1 van de 3 pagina's
In winkelwagen1. Which of the following features identified by fetal ultrasound is MORE commonly associated with trisomy 18 than with trisomy 21? A. nuchal thickening B. duodenal atresia C. echogenic bowel D. choroid plexus cyst correct answers D 2. A 20-year-old man and his family are seen for genetic...
T21 Risk by Maternal Age correct answers Age-------------------------------Risk 30 --------------------------------1/952 (.1%) 35 --------------------------------1/385 (.3%) 37 --------------------------------1/227 (.4%) 40 --------------------------------1/106 (.9%) 43 ------------------------...
Voorbeeld 2 van de 15 pagina's
In winkelwagenT21 Risk by Maternal Age correct answers Age-------------------------------Risk 30 --------------------------------1/952 (.1%) 35 --------------------------------1/385 (.3%) 37 --------------------------------1/227 (.4%) 40 --------------------------------1/106 (.9%) 43 ------------------------...
Hereditary Breast and Ovarian Cancer correct answers BRCA 1/2 Breast 50-87% Second primary tumor 50-64% BRCA 1: 20-45% BRCA 2: 10-30% BRCA 2: Male breast 6-10% Li-Fraumeni Syndrome correct answers -Sarcoma, breast, leukemia, adrenal and many others -May present in almost every way (ie all f...
Voorbeeld 4 van de 59 pagina's
In winkelwagenHereditary Breast and Ovarian Cancer correct answers BRCA 1/2 Breast 50-87% Second primary tumor 50-64% BRCA 1: 20-45% BRCA 2: 10-30% BRCA 2: Male breast 6-10% Li-Fraumeni Syndrome correct answers -Sarcoma, breast, leukemia, adrenal and many others -May present in almost every way (ie all f...
Angelman Syndrome causes (expression and % of total) correct answers **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 an...
Voorbeeld 2 van de 12 pagina's
In winkelwagenAngelman Syndrome causes (expression and % of total) correct answers **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 an...
Deductive correct answers rigid framework, disregard info that does not fit into frame Synthesizers correct answers can take in info that confirms and challenges their framework can use large amounts of info to make decisions Confused reasoners correct answers not less intelligent but have not...
Voorbeeld 2 van de 8 pagina's
In winkelwagenDeductive correct answers rigid framework, disregard info that does not fit into frame Synthesizers correct answers can take in info that confirms and challenges their framework can use large amounts of info to make decisions Confused reasoners correct answers not less intelligent but have not...
HBOC Genes and Inheritance correct answers - BRCA1, BRCA2 - Autosomal Dominant BRCA1 cancer risks correct answers Primarily breast, Ovarian, Male Breast, Prostate, Pancreatic BRCA2 cancer risk correct answers Breast, Ovarian, male breast, prostate, pancreatic, melanoma What ethnic popula...
Voorbeeld 2 van de 15 pagina's
In winkelwagenHBOC Genes and Inheritance correct answers - BRCA1, BRCA2 - Autosomal Dominant BRCA1 cancer risks correct answers Primarily breast, Ovarian, Male Breast, Prostate, Pancreatic BRCA2 cancer risk correct answers Breast, Ovarian, male breast, prostate, pancreatic, melanoma What ethnic popula...
What causes inborn errors of metabolism? correct answers Enzyme deficiencies What causes the symptoms of IEMs? correct answers 1. Accumulation of substrate, or 2. Deficiency of product T/F: Individuals with IEMs usually have dysmorphic features correct answers F What is the usual inheritan...
Voorbeeld 2 van de 11 pagina's
In winkelwagenWhat causes inborn errors of metabolism? correct answers Enzyme deficiencies What causes the symptoms of IEMs? correct answers 1. Accumulation of substrate, or 2. Deficiency of product T/F: Individuals with IEMs usually have dysmorphic features correct answers F What is the usual inheritan...
HBOC correct answers breast, ovarian, prostate, melanoma Familial Adenomatous Polyposis correct answers CHRPE (congenital hypertrophy of the retinal pigment epithelium) Li-Fraumini correct answers early breast, sarcoma, brain, leukemia, adrenocortical, choroid plexus tumors (childhood), fam hx...
Voorbeeld 2 van de 5 pagina's
In winkelwagenHBOC correct answers breast, ovarian, prostate, melanoma Familial Adenomatous Polyposis correct answers CHRPE (congenital hypertrophy of the retinal pigment epithelium) Li-Fraumini correct answers early breast, sarcoma, brain, leukemia, adrenocortical, choroid plexus tumors (childhood), fam hx...
A 45yearold man with colon cancer comes for genetic counseling. In conjunction with microsatellite instability testing, which of the following tests done on his colon tumor would be MOST helpful in deciding about testing for germline Lynch syndrome mutations? A. comparative genomic hybridization ...
Voorbeeld 2 van de 5 pagina's
In winkelwagenA 45yearold man with colon cancer comes for genetic counseling. In conjunction with microsatellite instability testing, which of the following tests done on his colon tumor would be MOST helpful in deciding about testing for germline Lynch syndrome mutations? A. comparative genomic hybridization ...
A boy walks in to your clinic. His father has similar features. Both father and son are around 4 ft and complain of never finding a hat that fits. Physician confirms boiling of the legs and frontal bossing. Genetic testing shows mutation in the FGF3 gene. What disease? correct answers Achondroplasia...
Voorbeeld 1 van de 4 pagina's
In winkelwagenA boy walks in to your clinic. His father has similar features. Both father and son are around 4 ft and complain of never finding a hat that fits. Physician confirms boiling of the legs and frontal bossing. Genetic testing shows mutation in the FGF3 gene. What disease? correct answers Achondroplasia...
A 13yearold girl comes to the genetics clinic because of frequent nosebleeds. When taking the family history, which of the following is the MOST important for the genetic counselor to elicit? A. gastrointestinal bleeds B. varicose veins C. hearing loss D. renal carcinoma correct answers A. gast...
Voorbeeld 2 van de 10 pagina's
In winkelwagenA 13yearold girl comes to the genetics clinic because of frequent nosebleeds. When taking the family history, which of the following is the MOST important for the genetic counselor to elicit? A. gastrointestinal bleeds B. varicose veins C. hearing loss D. renal carcinoma correct answers A. gast...
Under what circumstances should an infant with clinical features of Down syndrome be karyotyped? A. Only if the parents desire more children B. Only if the mother is younger than 35 years old C. Only if not all of the features of Down syndrome are present D. Only if the mother has had 3 earl...
Voorbeeld 3 van de 21 pagina's
In winkelwagenUnder what circumstances should an infant with clinical features of Down syndrome be karyotyped? A. Only if the parents desire more children B. Only if the mother is younger than 35 years old C. Only if not all of the features of Down syndrome are present D. Only if the mother has had 3 earl...
Transient Neonatal Diabetes Mellitus correct answers (1)UPD isodisomy of chr 6 (2) pat 6q24 duplication (3) 6q24 methylation defect Velocardiofacial (Di-George) correct answers AD Alagille Syndrome correct answers AD Brugada Syndrome correct answers AD Hereditary Hemorrhagic Telangiectas...
Voorbeeld 2 van de 6 pagina's
In winkelwagenTransient Neonatal Diabetes Mellitus correct answers (1)UPD isodisomy of chr 6 (2) pat 6q24 duplication (3) 6q24 methylation defect Velocardiofacial (Di-George) correct answers AD Alagille Syndrome correct answers AD Brugada Syndrome correct answers AD Hereditary Hemorrhagic Telangiectas...
What heart defects can be seen in Noonan syndrome? correct answers Pulmonary valve stenosis and hypertrophic cardiomyopathy What syndrome is associated with dysmorphic facies, short stature, cryptorchidism, renal malformations, scoliosis, lymphedema, hematological disorders? correct answers Noona...
Voorbeeld 3 van de 25 pagina's
In winkelwagenWhat heart defects can be seen in Noonan syndrome? correct answers Pulmonary valve stenosis and hypertrophic cardiomyopathy What syndrome is associated with dysmorphic facies, short stature, cryptorchidism, renal malformations, scoliosis, lymphedema, hematological disorders? correct answers Noona...
Incidence of malrotation correct answers 1/500 LB Esophageal atresia (+/- tracheal fistula) accounts for how many of all GI atresias? correct answers 1/3 Esophageal atresia is associated with >23 conditions. Which condition is most often seen with esophageal atresia? correct answers VATER ...
Voorbeeld 1 van de 3 pagina's
In winkelwagenIncidence of malrotation correct answers 1/500 LB Esophageal atresia (+/- tracheal fistula) accounts for how many of all GI atresias? correct answers 1/3 Esophageal atresia is associated with >23 conditions. Which condition is most often seen with esophageal atresia? correct answers VATER ...
LMNA G608G correct answers A young patient (5yrs) presents for the first time to a new dentist with crowded teeth, making them very hard to clean. In further exploration of the issue, she learns that the child had delayed eruption of his teeth. The patient's mother also relays that her pediatrician...
Voorbeeld 4 van de 46 pagina's
In winkelwagenLMNA G608G correct answers A young patient (5yrs) presents for the first time to a new dentist with crowded teeth, making them very hard to clean. In further exploration of the issue, she learns that the child had delayed eruption of his teeth. The patient's mother also relays that her pediatrician...
Practice-Based Competencies correct answers -minimum skills needed to be a successful genetic counselor that students should have when they graduate -sets standard for training programs -works hand in hand w/ board exam; all GCs who pass exam will have certain foundational skills -ACGC What a...
Voorbeeld 1 van de 3 pagina's
In winkelwagenPractice-Based Competencies correct answers -minimum skills needed to be a successful genetic counselor that students should have when they graduate -sets standard for training programs -works hand in hand w/ board exam; all GCs who pass exam will have certain foundational skills -ACGC What a...
ACE inhibitors correct answers "the only anti-hypertensive medications associated with structural defects, Renal tubular dysplasia -> oligohydramnios, Potter's sequence, and pulmonary hypoplasia IUGR Hypocalvaria manifested by large anterior fontanel, vasodilation, severe fetal hypotension, a...
Voorbeeld 2 van de 6 pagina's
In winkelwagenACE inhibitors correct answers "the only anti-hypertensive medications associated with structural defects, Renal tubular dysplasia -> oligohydramnios, Potter's sequence, and pulmonary hypoplasia IUGR Hypocalvaria manifested by large anterior fontanel, vasodilation, severe fetal hypotension, a...
Anticonvulsant embryopathy ie: Phenytoin, trimethadione, carbamazepine, valproate, barbiturates correct answers increased risk of birth defects 2-3X increase in SAB maternal fetal hypoxia & acidosis, preeclampsia preterm Hypertelorism, Broad depressed nasal bridge, Short nose with anteverted nare...
Voorbeeld 1 van de 2 pagina's
In winkelwagenAnticonvulsant embryopathy ie: Phenytoin, trimethadione, carbamazepine, valproate, barbiturates correct answers increased risk of birth defects 2-3X increase in SAB maternal fetal hypoxia & acidosis, preeclampsia preterm Hypertelorism, Broad depressed nasal bridge, Short nose with anteverted nare...
*Sickle Cell* Genetics Phenotype Diagnosis Treatment correct answers *Genetics:* HbSS Gluexon6Val mutation in HBB gene chr. 11p15.4 *Phenotype:* Structurally abnormal Hb Manifests at 6-12 months (HbF --> HbA) Painful crises, anemia, organ damage, pulmonary HTN *Diagnosis:* Hb electr...
Voorbeeld 4 van de 54 pagina's
In winkelwagen*Sickle Cell* Genetics Phenotype Diagnosis Treatment correct answers *Genetics:* HbSS Gluexon6Val mutation in HBB gene chr. 11p15.4 *Phenotype:* Structurally abnormal Hb Manifests at 6-12 months (HbF --> HbA) Painful crises, anemia, organ damage, pulmonary HTN *Diagnosis:* Hb electr...
5 tenets of GC in the REM model correct answers 1. genetic info is key 2. patient autonomy must be supported 3. patient's emotion's matter 4. patient autonomy must be supported 4. relationship is integral *reciprocity= each element of the model is complementary to the others *engagement= ...
Voorbeeld 2 van de 5 pagina's
In winkelwagen5 tenets of GC in the REM model correct answers 1. genetic info is key 2. patient autonomy must be supported 3. patient's emotion's matter 4. patient autonomy must be supported 4. relationship is integral *reciprocity= each element of the model is complementary to the others *engagement= ...
Reference, Green Book Chapter 3 The match between the counselor's inner process and the response to it is known as ___________. correct answers Congruence Eyes shining with unshed tears as a father relates the story of his child's death and the subsequent grief he has endured would alert the...
Voorbeeld 4 van de 44 pagina's
In winkelwagenReference, Green Book Chapter 3 The match between the counselor's inner process and the response to it is known as ___________. correct answers Congruence Eyes shining with unshed tears as a father relates the story of his child's death and the subsequent grief he has endured would alert the...
ACE inhibitors correct answers "the only anti-hypertensive medications associated with structural defects, Renal tubular dysplasia -> oligohydramnios, Potter's sequence, and pulmonary hypoplasia IUGR Hypocalvaria manifested by large anterior fontanel, vasodilation, severe fetal hypotension, a...
Voorbeeld 2 van de 6 pagina's
In winkelwagenACE inhibitors correct answers "the only anti-hypertensive medications associated with structural defects, Renal tubular dysplasia -> oligohydramnios, Potter's sequence, and pulmonary hypoplasia IUGR Hypocalvaria manifested by large anterior fontanel, vasodilation, severe fetal hypotension, a...
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