Proscholar

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 correct answers C. immunohistochemical staining A 43yearold woman seeks genetic counseling because of a recent di...

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 A girl comes to clinic after a cardiac evaluation. She was born with a VSD and radiographic images show butterfly shaped vertabrae. Upon further examination, you notice her skin looks jaundiced. W...

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. gastrointestinal bleeds A woman who was evaluated and diagnosed with facioscapulohumeral (FSH) muscular dystrophy 10 years ago calls to request general information to share with her new husband and his...

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 correct answers E. Always What is the parental origin and stage of meiosis when most meiotic errors occur resulting in chromosomal trisomy? A. Maternal meiosis I B. P...

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 Telangiectasia (HHT) correct answers AD Holt-Oram syndrome correct answers AD Leopard Syndrome correct answers AD Noonan Syndrome correct answers AD Williams Syndrome correct answers AD Hereditary ...

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 Noonan syndrome What genes are associated with HHT? correct answers ACVRL1, ENG, SMAD4 What percentage of Tuberous Sclerosis is de novo? correct answers 2/3 What major systems are affected by Tube...

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 30% of duodenal atresia cases are associated with which chromosomal condition? correct answers trisomy 21 incidence of duodenal atresia correct answers 1/10,000 LB Duodenal atresia accounts fo...

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 has several times noted how prominent the veins of his scalp are and his short stature. However, she thinks that this is just part of the spectrum seen in their family given that she herself is quite...

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 are the 4 Domains of the Practice Based Competencies? correct answers -Genetics Expertise and Analysis -Interpersonal, Psychosocial, and Counseling Skills -Education -Professional Development and P...

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, anuria/oliguria" Alcohol correct answers "Growth restriction CNS involvement, (intelligence & behavior) Characteristic facial features such as ptosis, short palpebral fissures, smooth philtrum a...