- Guías de estudio, Notas de estudios & Resúmenes

What should individuals with Ataxia Telangiectasia avoid? - Ionizing radiation What gene is associated with Sotos? - NSD1 Solos follows what inheritance pattern? - AD Increased body mass, delayed motor/cognitive/verbal/social --phobias, aggression, seizures, chronic constipation common - Sotos What syndrome is caused mostly by microdeletions in individuals of Japanese ancestry and intragenic mutations in non-Japanese? - Sotos What gene is associated with Canavan syndrome? - ASPA Macrocep...

-

11 páginas

Escrito en 2024/2025

Grado A+

TUTORJOEL

Cancer Questions Only from - ABGC Practice Test 1 - 02/2025 | Q&A Latest 2024/2025 | 100% PASS 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 B. tumor cell karyotype C. immunohistochemical staining D. loss of heterozygosity - Answer -C. immu...

-

11 páginas

Escrito en 2024/2025

Grado A+

mercylynneh

Bundled Tests For Abgc | Questions And Correct Answers | Latest Update 2024/2025

-

9 artículos

mercylynneh

ABGC 100 disorders | Q&A Latest Update 2024/2025 | 100% PASS 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? - Answer - Achondroplasia A girl comes to clinic after a cardiac evaluation. She was born with a VSD and radiographic images show butterfly shaped vertabrae. Upo...

-

7 páginas

Escrito en 2024/2025

Grado A+

mercylynneh

ABGC Practice Questions and Correct Answers | Latest Update 2024/2025 | 100% PASS 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 early miscarriages E. Always - Answer -E. Always What is the parental origin and stage of meiosis when most meiotic err...

-

45 páginas

Escrito en 2024/2025

Grado A+

mercylynneh

ABGC Practice 2024 | Q&A Latest Update 2024/2025 | 100% PASS 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 - Answer -A. gastrointestinal bleeds A woman who was evaluated and diagnosed with facioscapulohumeral (FSH) muscular dystrophy 10 years ago calls to request ...

-

22 páginas

Escrito en 2024/2025

Grado A+

mercylynneh

Combo with "ABGC Boards" and 12 others | Q&A Latest Update 2024/2025 | 100% PASS What heart defects can be seen in Noonan syndrome? - Answer - Pulmonary valve stenosis and hypertrophic cardiomyopathy What syndrome is associated with dysmorphic facies, short stature, cryptorchidism, renal malformations, scoliosis, lymphedema, hematological disorders? - Answer -Noonan syndrome What genes are associated with HHT? - Answer -ACVRL1, ENG, SMAD4 What percentage of Tuberous Sclerosis is d...

-

38 páginas

Escrito en 2024/2025

Grado A+

mercylynneh

ABGC Board Exam (Genetic Counseling) | Q&A Latest Update 2024/2025 | 100% PASS Osteogenesis imperfecta - Answer -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, neonatal lethal, abnormal collagen Type III: AD, progressive deforming, fractures at birth, small, blue sclera Type IV: AD,...

-

7 páginas

Escrito en 2024/2025

Grado A+

mercylynneh

ABGC Exam Prep | Q&A Latest Update 2024/2025 | 100% PASS Advanced Empathy - Answer -Used to go below the surface of a conversation Reflection of things not directly stated Includes reframing and interpretation confrontation - Answer -Asking the client to see things differently Use it for the client's advantage Rogerian Counseling: Person-First Counseling - Answer -Unconditional positive regard Be genuine Show empathy, warmth, and caring Be calm Therapeutic alliance/ dignity and r...

-

61 páginas

Escrito en 2024/2025

Grado A+

mercylynneh

ABGC Practice Quiz Questions and Correct Answers | Latest Update 2024/2025 | 100% PASS 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 ...

-

23 páginas

Escrito en 2024/2025

Grado A+

mercylynneh

ABGC 100 Genetic Conditions | Q&A Latest Update 2024/2025 | 100% PASS T13 - Answer -Nondisjunction; 1 in 12,000 SGA, MCA: hypotelorism, CLP, heart, brain and kidney defects RR is 1% T18 - Answer -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 - Answer -MATERNAL nondisjunction (90%); 5% translocation 21;**usually 14**; 2% mosaic T21 1 in 800 Hypotonic, heart (50%) and GI defects common...

-

51 páginas

Escrito en 2024/2025

Grado A+

mercylynneh

ABGC Boards – Psychosocial | Q&A Latest Update 2024/2025 | 100% PASS What are the 3 tenets of person-centred counselling? - Answer -1) Respect 2) Genuineness 3) Empathy What is respect in genetic counselling? - Answer -Acceptance of patient What is genuineness in genetic counselling? - Answer -Being yourself within the capacity of being a genetic counsellor What is congruence in genetic counselling? - Answer -Agreement between a counsellor's inner

-

6 páginas

Escrito en 2024/2025

Grado A+

mercylynneh

ABGC Exam | Q&A Latest Update 2024/2025 | 100% PASS Holt-Oram Syndrome - Answer -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. Hereditary Hemorrhagic Telangiectasia - Answer -AD, LOF mutations in ENG (40-60%), ACVRL1 (25-55%), or SMAD4 (1-2%), or GDF2 (rare). SMAD4 mutations can...

-

31 páginas

Escrito en 2024/2025

Grado A+

mercylynneh

Official Example Questions from ABGC Cert Exam | Q&A Latest Update 2024/2025 | 100% PASS 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 - Answer -D 2. A 20-year-old man and his family are seen for genetic counseling to discuss his recent diagnosis of Charcot-Marie-Tooth (CMT) disease. After introductions, which of the f...

-

6 páginas

Escrito en 2024/2025

Grado A+

mercylynneh

ABGC Boards Prenatal Study Set | Q&A Latest Update 2024/2025 | 100% PASS T21 Risk by Maternal Age - Answer -Age-------------------------------Risk 30 --------------------------------1/952 (.1%) 35 --------------------------------1/385 (.3%) 37 --------------------------------1/227 (.4%) 40 --------------------------------1/106 (.9%) 43 --------------------------------1/50 (3.1%) Risk of Any Chrom Abnl by Maternal Age - Answer -Age---------------------- ----------Risk 30---------------...

-

31 páginas

Escrito en 2024/2025

Grado A+

mercylynneh

ABGC Boards - Final Review | Q&A Latest Update 2024/2025 | 100% PASS Hereditary Breast and Ovarian Cancer - Answer -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 - Answer --Sarcoma, breast, leukemia, adrenal and many others -May present in almost every way (ie all family members with same cancers or all with different) -Adrenocortical carcinoma considered pathognomonic -50% have some type by 30, 90% by...

-

112 páginas

Escrito en 2024/2025

Grado A+

mercylynneh

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, de...

-

20 páginas

Escrito en 2024/2025

Grado A+

mercylynneh

ABGC Boards - Final Review 2 | Q&A Latest Update 2024/2025 | 100% PASS Deductive - Answer -rigid framework, disregard info that does not fit into frame Synthesizers - Answer -can take in info that confirms and challenges their framework can use large amounts of info to make decisions Confused reasoners - Answer -not less intelligent but have not learned how to process info can not differentiate between trivial and important Spontaneous - Answer -active communicators respond easily and ...

-

15 páginas

Escrito en 2024/2025

Grado A+

mercylynneh

Cancer ABGC Study Set | Q&A Latest Update 2024/2025 | 100% PASS HBOC Genes and Inheritance - Answer -- BRCA1, BRCA2 - Autosomal Dominant BRCA1 cancer risks - Answer -Primarily breast, Ovarian, Male Breast, Prostate, Pancreatic BRCA2 cancer risk - Answer -Breast, Ovarian, male breast, prostate, pancreatic, melanoma What ethnic population has an increased risk for HBOC And what is their carrier frequency - Answer -Ashkenazi Jewish - 1:40 individuals carry one of three founder mutations ...

-

31 páginas

Escrito en 2024/2025

Grado A+

mercylynneh

ABGC Boards: Metabolics | Q&A Latest Update 2024/2025 | 100% Pass What causes inborn errors of metabolism? - Answer -Enzyme deficiencies What causes the symptoms of IEMs? - Answer -1. Accumulation of substrate, or 2. Deficiency of product T/F: Individuals with IEMs usually have dysmorphic features - Answer -F What is the usual inheritance pattern of IEMs? - Answer -Recessive T/F: IEMs usually have effective treatment options - Answer -T Why are IEMs common targets of NBS? - Answer -Ef...

-

19 páginas

Escrito en 2024/2025

Grado A+

mercylynneh