source
stringclasses 3
values | author
stringclasses 3
values | question
stringlengths 51
1.19k
| optionA
stringlengths 1
223
| optionB
stringlengths 1
160
| optionC
stringlengths 1
210
| optionD
stringlengths 1
211
| letter_answer
stringclasses 4
values |
|---|---|---|---|---|---|---|---|
https://quizlet.com/476301059/genetic-counseling-boards-review-questions-flash-cards/ | kelsie_cain | You are seeing a 5yo male with a recent diagnosis of autism spectrum disorder. He has no other known health problems or congenital anomalies and has not had any previous genetic testing. His parents are interested in pursuing genetic testing to determine the etiology of his autism spectrum diagnosis. What is the most appropriate test to offer? | Karyotype | Chromosome microarray | Whole exome sequencing | Multi-gene panel of autism spectrum disorder genes | B |
https://quizlet.com/476301059/genetic-counseling-boards-review-questions-flash-cards/ | kelsie_cain | You are reviewing testing results for whole exome sequencing of a patient you saw in the pediatrics genetics clinic. When evaluating possible variants for pathogenicity, which of the following evidence alone would offer the strongest support for a pathogenic variant? | A nonsense mutation in a gene where a loss of function is a known mechanism of the disease | A de novo mutation confirmed with trio testing with no family history of the disease | In vivo functional studies supporting damage to the protein product | The variant is within a known mutational hotspot of the gene | A |
https://quizlet.com/476301059/genetic-counseling-boards-review-questions-flash-cards/ | kelsie_cain | A 3-year-old male with speech delay presents to the pediatric genetics clinic. He began walking at 11mo and has had multiple fractures between now and then, all healing normal. What do you tell the family is the most likely inheritance? | AD, pathogenic variant passed down from mother | AD, pathogenic variant passed down from father | AR, both parents are obligate carriers of a pathogenic variant | AD, de novo pathogenic variant | D |
https://quizlet.com/476301059/genetic-counseling-boards-review-questions-flash-cards/ | kelsie_cain | A 28-year-old female is referred to a prenatal genetics clinic because her husband has a clinical diagnosis of osteogenesis imperfecta. She is 10 weeks pregnant and would like to screen her pregnancy for OI. What plan should you recommend to the patient? | COL1A1 and COL1A2 sequencing analysis of father then return to discuss prenatal testing once familial variant has been identified | Wait until ~15 weeks to complete amniocentesis for COL1A1 and COL1A2 sequencing analysis of the pregnancy | Chorionic villus sampling to complete biochemical analysis of type 1 collagen | Serial ultrasounds starting at 18 weeks to look for diagnostic skeletal deformities | C |
https://quizlet.com/476301059/genetic-counseling-boards-review-questions-flash-cards/ | kelsie_cain | A 4-year-old female comes to genetics clinic with her foster mother for follow up of global developmental delays. The genetics team had previously evaluated the patient shortly after birth during in-patient consults due to bicuspid aortic valve and dysmorphic facial features. Until now, she was lost to care and no genetic testing had been ordered. She was also recently seen by Developmental Pediatrics and diagnosed with autism. What is the best genetic testing plan to discuss with the family? | FMR1 with reflex to microarray | Chromosome Analysis with reflex to microarray | Microarray with reflex to FMR1 | MECP2 with reflex to microarray | C |
https://quizlet.com/476301059/genetic-counseling-boards-review-questions-flash-cards/ | kelsie_cain | A 16-year-old male comes to genetics clinic with his mother due to presentation of pectus carinatum. His surgical history is significant for pneumothorax repair. He is following Ophthalmology for high myopia. Physical exam is notable for pes planus, reduced elbow extension, and scoliosis. Recent echo report notes dilated aortic root. What is the best genetic test to counsel the family on? | Chromosome analysis | FBN1 deletion/duplication analysis | COL3A1 sequencing | FBN1 sequencing | D |
https://quizlet.com/476301059/genetic-counseling-boards-review-questions-flash-cards/ | kelsie_cain | Orofacial clefts are often multifactorial in nature and attributing causal factors and risk can be challenging due to their complex inheritance. However, several risk factors have been identified, the most significant factor of which is: | Maternal cigarette smoking | Mutations in MSX1 | Mutations in IRF6 | Mutations in FGF genes | C |
https://quizlet.com/476301059/genetic-counseling-boards-review-questions-flash-cards/ | kelsie_cain | Upslanting and downslanting palpebral fissures are measured clinically by drawing a line connecting the __ and determining whether this line intersects the inner and outer eye. | Pupils | Internal canthi | External canthi | Midpoint of the inner sclera | A |
https://quizlet.com/476301059/genetic-counseling-boards-review-questions-flash-cards/ | kelsie_cain | You are asked to see an infant (10 months) whose pediatrician is concerned about his abnormally large fontanels that have not fused and some dysmorphic feature including tapering fingers and shoulders that appear to face towards the midline. Upon further questioning your team identifies that the patient's mother had limited access to prenatal care. Which test is most important as your team considers testing options? | RUNX2 sequencing analysis | RUNX2 del/dup analysis | FGFR3 targeted mutation analysis | TWIST1 sequencing | A |
https://quizlet.com/476301059/genetic-counseling-boards-review-questions-flash-cards/ | kelsie_cain | FGFR3 exhibits phenotypic or clinical heterogeneity in that mutations in FGFR3 can cause all of the following conditions except: | Hypochondroplasia | Thanatophoric dysplasia | Pfieffer Syndrome | Muenke Syndrome | C |
https://quizlet.com/476301059/genetic-counseling-boards-review-questions-flash-cards/ | kelsie_cain | A 3 year old male presents to pediatric genetics clinic for developmental delay. Surgical history is significant for repair of coarctation found on echo to evaluate a heart murmur. He has a g-tube for supplemental feeds due to failure to thrive. Clinical evaluation notes short fifth fingers and persistent fetal fingertip pads, long palpebral fissures, and arched eyebrows. The family is interested in pursuing genetic testing to clarify a diagnosis and inform family planning. You discuss the following: | Sequencing of KMT2D (also known as MLL2); if positive, up to 25% chance of having another affected child | Deletion/duplication of KMT2D; if positive, up to a 25% chance of having another affected child | Sequencing of KMT2D; if positive, up to a 50% chance of having another affected child | Deletion/duplication of KMT2D; if positive up to a 50% chance of having another affected child | C |
https://quizlet.com/476301059/genetic-counseling-boards-review-questions-flash-cards/ | kelsie_cain | A 4yo female is referred to pediatric genetics for presentation of poor growth, recurrent upper respiratory infections, and abnormal sweat chloride test. You obtain a family history and family reports that their ethnicity is Hispanic. You recommend the following testing: | Targeted F508 testing with reflex to full gene sequencing of CFTR | ACOG 23 mutation panel with reflex to full gene sequencing of CFTR | Genzyme 97 mutation panel with reflex to full gene sequencing of CFTR | Full gene sequencing of CFTR | D |
https://quizlet.com/476301059/genetic-counseling-boards-review-questions-flash-cards/ | kelsie_cain | A 12yo male is referred to connective tissue clinic by pediatric surgery due to pectus carinatum and kyphosis. His history is significant for gross and fine motor delays. Mother reports that the delays were suspected to be caused by joint stiffness in knees, hips, and thumbs which improved with physical therapy. On physical exam, it is noted that his ears have a "crumpled" appearance. Family history is remarkable for father with similar delays and marfanoid habitus. You recommend the following: | FBN2 gene analysis; echocardiogram | FBN1 gene analysis; renal ultrasound | FBN2 gene analysis; renal ultrasound | Microarray | A |
https://quizlet.com/476301059/genetic-counseling-boards-review-questions-flash-cards/ | kelsie_cain | A 28yo woman presents to genetics clinic due to difficulty becoming pregnant. She reports irregular menstrual cycles. Family history is remarkable for maternal grandfather with Parkinson-like presentation. FMR1 testing results with a trinucleotide repeat size of 150 confirming that she is a premutation carrier. She expresses, "I thought my irregular periods were just because I ran long distances but you are telling me it is because of this Fragile X condition." The counselor replies, "You are surprised that this genetic test result is explaining your cycles rather than lifestyle." Which of the following techniques BEST describes this response? | Summarizing | Feeling Reflection | Content and Feeling Reflection | Paraphrasing | C |
https://quizlet.com/476301059/genetic-counseling-boards-review-questions-flash-cards/ | kelsie_cain | A 36-year-old African American woman who is 14w1d is seeing you to discuss her options for prenatal testing. The pregnancy has been unremarkable except for some morning sickness. She wants to know as much information as she can. Her family history is positive for a first cousin with autism spectrum disorder. In addition to her testing options for chromosomal abnormalities, you discuss carrier screening. What would be the most appropriate test to order for CF carrier screening? | Standard CF panel | Expanded mutation panel | CFTR sequencing | None. Testing is not indicated | B |
https://quizlet.com/476301059/genetic-counseling-boards-review-questions-flash-cards/ | kelsie_cain | A couple is seeing you for preconception counseling. A few years ago, their 10 month old son died from complications of Zellweger syndrome. They want to know their chance of having another affected child. | 1-2% | 25% | 50% if it is a male | You do not have enough information to answer this | B |
https://quizlet.com/476301059/genetic-counseling-boards-review-questions-flash-cards/ | kelsie_cain | Chad is a two-year-old boy who has come in for a genetics evaluation. At Chad's last well child visit, at 15 months of age, the history and physical examination were normal, but he was not talking. Chad still has no expressive language. He appears to hear normally and follows simple commands. His gross and fine motor development appear normal for his age. He is described as shy. Parents note that he is not communicative with other children or adults and consistently avoids eye contact. He is frequently irritable and hyperactive at home. Neonatal history was unremarkable except for hypotonia. Before even completing a physical exam, which of the following would NOT be on your differential? | Fragile X Syndrome | Prader-Willi Syndrome | Angelman Syndrome | Rett Syndrome | D |
https://quizlet.com/476301059/genetic-counseling-boards-review-questions-flash-cards/ | kelsie_cain | Which of the following genetic conditions is not the result of a collagen defect? | Osteogenesis imperfecta, Type II | Congenital contractural arachnodactyly | Ehlers Danlos, classic type | Multiple epiphyseal dysplasia | B |
https://quizlet.com/476301059/genetic-counseling-boards-review-questions-flash-cards/ | kelsie_cain | You are meeting with a 10 year old male with intellectual disability and a history of developmental delay who has had a normal karyotype analysis and chromosome microarray. In taking the medical and family history, which of the following is the least important question to ask the parents? | How old were his parents at the time of his conception? | Were there any prenatal exposures to medications, alcohol, or recreational drugs? | Is there any family history of intellectual disability or developmental delay? | Were there any complications with his birth or immediately following birth? | A |
https://quizlet.com/476301059/genetic-counseling-boards-review-questions-flash-cards/ | kelsie_cain | You are meeting with a woman who is 20 weeks pregnant with her second child. The ultrasound technician noted supravalvular aortic stenosis and the patient was referred to genetics for a genetic counseling appointment. What condition will you likely discuss with the pregnant woman? | Alagille syndrome | Costello syndrome | Noonan syndrome | Williams syndrome | D |
https://quizlet.com/476301059/genetic-counseling-boards-review-questions-flash-cards/ | kelsie_cain | You are meeting an 8-month-old boy and his parents. The boy was recently diagnosed with 22q11.2 deletion syndrome after his pediatrician sent for genetic testing. Which of the following signs is least likely to have prompted the pediatrician to consider 22q11.2 deletion syndrome? | Ventricular septal defect | Submucosal cleft palate | Frequent infections | Umbilical hernia | D |
https://quizlet.com/476301059/genetic-counseling-boards-review-questions-flash-cards/ | kelsie_cain | You are meeting with a couple of Northern-European ancestry who are expecting their first child. You discuss carrier screening for cystic fibrosis using a panel of common mutations. What is the most important information the couple should know about carrier screening for cystic fibrosis? | There are over 2000 known mutations in the CFTR gene that cause cystic fibrosis | The carrier screening panel for cystic fibrosis has a high detection rate | If the couple both test negative with the carrier panel, there is a residual risk for cystic fibrosis in their current pregnancy | Being a cystic fibrosis carrier is common for those of Northern-European ancestry | C |
https://quizlet.com/476301059/genetic-counseling-boards-review-questions-flash-cards/ | kelsie_cain | A woman who was evaluated and diagnosed 5 years ago with limb girdle muscular dystrophy type 2D comes for genetic counseling with her new husband. The couple is considering starting a family in the near future. Which of the following should the counselor do FIRST? | Request a consultation with perinatology and cardiology. | Check creatine kinase levels and offer genetic testing for the patient. | Ensure genetic testing for the patient and her husband. | Refer the couple to a fertility group for preimplantation genetic diagnosis. | C |
https://quizlet.com/476301059/genetic-counseling-boards-review-questions-flash-cards/ | kelsie_cain | A couple who are first cousins inquire about the chance of having a child affected with a genetic disorder. Their common maternal uncle has galactosemia. The chance that they will have child with galactosemia is | 1/8. | 1/16 | 1/36. | 1/64. | C |
https://quizlet.com/476301059/genetic-counseling-boards-review-questions-flash-cards/ | kelsie_cain | A 40-year-old pregnant woman comes for genetic counseling. She tells the genetic counselor that she has been taking paroxetine for an anxiety disorder and is concerned about the effects of this drug on the fetus. Which of the following resources is BEST to determine the risk to the fetus? | GeneTests | OMIM | March of Dimes | OTIS | D |
Subsets and Splits