You Make Me Sick
A new patient, 3 months old, comes into your clinic. The note from the referring physician describes the patient as listless with a lack of appetite and constant vomiting. During your history taking, the mother adds that the child has been smelling of sweaty feet no matter how many baths you give them. Which of the following disorders do you suspect?
A. MCAD Deficiency
B. Lesch Nyhan Syndrome
C. Methylmalonic Acidemia
D. Isovaleric Acidemia
D. Isovaleric Acidemia
A 34-year-old G2P1001 female returns to a high-risk pregnancy clinic to discuss recurrence risk for cystic fibrosis (with which her first child is affected). This pregnancy is with a new partner who is of Northern European ancestry. What is the risk for the current pregnancy to be affected?
A. 1 in 4
B. 1 in 50
C. 1 in 100
D. 1 in 150
E. 1 in 200
C. 1 in 100
Which of the following does not correctly pair the type of heterogeneity with the description?
A. An increased risk of breast cancer is seen carriers of pathogenic variants in BRCA1 and BRCA2; locus heterogeneity
B. Mutations in FGFR3 can cause Muenke syndrome, achondroplasia, and thanatophoric dysplasia; allelic heterogeneity
C. Over 2000 mutations in CFTR can cause CF; allelic heterogeneity
D. Hypertrophic cardiomyopathy can be caused by multiple genes including MYH7, MYBCP3, and TNNT; locus heterogeneity
B. Mutations in FGFR3 can cause Muenke syndrome, achondroplasia, and thanatophoric dysplasia; allelic heterogeneity
You are seeing a patient in the adult medical genetics clinic referred for evaluation of a connective tissue disorder. As the genetic counselor, you wish to show strong attending skills throughout the session. Which of the following scenarios demonstrates psychological attending to the patient.
A. You nod your head and verbalize “mm-hmmm” to the patient’s speaking
B. You work to remain relaxed throughout the session
C. You take note that the patient becomes emotional during the family history when you ask about her father
D. You try to avoid distracting behaviors such as looking repeatedly at your watch
C. You take note that the patient becomes emotional during the family history when you ask about her father
Psychological attending includes sensing the feelings and attitudes the patient may have. This is in contrast to physical attending which includes the ways the GC would demonstrate or communicate understanding to the patient.
A 40yo woman was recently found to have a pathogenic variant in the FH gene following a diagnosis of kidney cancer. She is interested in having her 11yo daughter tested for the pathogenic variant. You tell her that:
A. Given that most cancers associated with FH variants are adult onset, you would recommend that she wait until her daughter is 18 so she can make an autonomous decision
B. Given that screening would not be initiated until her 20s, you would recommend that she wait until her daughter is 18 so she can make an autonomous decision
C. Testing her daughter would be appropriate
D. Both A and B
C. Testing her daughter would be appropriate
You are seeing parents who have a daughter who was recently diagnosed with Angelman syndrome. What is the most likely cause of the condition?
A. Mutations in UBE3A
B. Deletion of 15q12 of the maternally derived chromosome
C. Paternal UPD
D. Deletion of 15q12 of the paternally derived chromosome
B. Deletion of 15q12 of the maternally derived chromosome
A 50‐year‐old woman tests negative for a familial BRCA2 mutation. She plans to discuss ovary removal with her gynecologist because she believes her risks are still high. The genetic counselor should clarify that the woman’s lifetime risk for ovarian cancer is closest to:
A. 2%
B. 12%
C. 40%
D. 50%
A. 2%
On your way into work from the parking garage you run into one of the pediatricians who is the source of many of your referrals. She is excited to see you because she has just referred her most recent patient to you and is hoping you can help her understand how to better manage this patient. She tells you that the patient has a mutation in SMAD4 but she hasn’t seen the actual test result yet. You start to explain how important it is that you get that report before seeing the patient and the pediatrician nods in agreement, but because she’s heard this before you aren’t sure she understands how critically important it is in this scenario given that SMAD4 mutations demonstrate __________________ in that different mutations in the gene can cause Juvenile Polyposis Syndrome, Hereditary hemorrhagic telangiectasia or, less commonly, Myhre Syndrome,
A. Allelic heterogeneity
B. Clinical heterogeneity
C. Variable expressivity
D. Pseudo-deficiency
B. Clinical heterogeneity
You are in a session with a pregnant patient discussing the results of her positive cystic fibrosis carrier screen. The patient appears to you to be engaged and is nodding along to what you say, but the answers she is giving you seem off, like she is not really listening. What is your BEST next step?
A. Directly ask her if there is anything troubling her that she would like to discuss
B. Observe the patient for nonverbal cues (nervous fidgeting, eye movements) that may help you better identify her state of mind
C. Tell her that it seems like she may need a break and step out
D. Keep counseling, keeping in mind your time limit and need to move the session along
B. Observe the patient for nonverbal cues (nervous fidgeting, eye movements) that may help you better identify her state of mind
A 20-year-old male is seen in a cardiovascular clinic for family history of sudden death in a 43-year-old maternal uncle who passed in his sleep after Thanksgiving dinner. The patient has little contact with his mother but knows she is followed by a doctor for “rhythm problems”. Which of the following conditions is most likely to be present in this family?
A. Noonan syndrome
B. Long QT syndrome
C. Brugada syndrome
D. Dilated cardiomyopathy
E. Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT)
C. Brugada syndrome
You are seeing a patient who has been described as having marked hepatosplenomegaly, psychomotor regression following 14 months of age, and a cherry-red spot on macula following eye exam. Which of the following disorders do you suspect?
A. Tay Sachs
B. Neimann-Pick
C. OTC Deficiency
D. Propionic Acidemia
B. Neimann-Pick
A couple is coming into preconception counseling because of their history of three recurrent miscarriages and no living children. While taking their family history, you notice a pattern of breast and ovarian cancer from both of the partners’ families. You ask them if anyone in the family has undergone genetic testing because of the family history of cancer. They are not aware if anyone has. You are not only concerned that they may be at an increased risk for cancer, but this family history may have reproductive risks as well. Specifically, they may be at risk for having a child with:
A. FANCC
B. FANCD1
C. CMMRD
D. Both A and C
B. FANCD1
Although truncating mutations in the TTN gene are the most common cause of ________, the same phenotype can also be caused by mutations in other sarcomere genes as well as those involved in the cytoskeletal system, z-discs and nuclear envelope. The diverse genetic basis of this condition highlights the principle of ________________.
A. HCM; phenotypic heterogeneity
B. DCM; locus heterogeneity
C. LV noncompaction; phenotypic heterogeneity
D. HCM; allelic heterogeneity
B. DCM; locus heterogeneity
A 33 year old patient presents in clinic after a recent diagnosis of alpha-1 antitrypsin deficiency. He has a history of obstructive jaundice, cirrhosis of the liver and recently developed COPD and emphysema, making it difficult for him to exercise. During the session, the patient seems concerned about how this will impact his ability to train for a half marathon he was hoping to run in honor of his mother who recently passed away from Breast Cancer, saying “I really want to run this race with all my siblings, but I’m worried that I won’t be able to train adequately given this recent development. I am hoping to talk to the doctor about what he can do.” You want to respond empathetically. Which of the following approaches to primary empathy is correctly paired?
A. “You want to know if you’ll be able to train for the half marathon?” (Content reflection)
B. “So, what I’m hearing is that you’re anxious about being able to train properly. And with all of your siblings running the race together, this is an important and anticipated way of honoring and remembering your mother” (Summarizing)
C. “You’re worried?” (Paraphrasing)
D. “You are wanting a treatment for your COPD so that you aren’t limited in your physical activity.” (Feeling Reflection)
B. “So, what I’m hearing is that you’re anxious about being able to train properly. And with all of your siblings running the race together, this is an important and anticipated way of honoring and remembering your mother” (Summarizing)
A - Paraphrasing. C - Minimal Encouaraging. D - Summarizing/Content Reflection.
For which of the following would a CMA be an appropriate test to order?
i. Suspected 22q11.2
ii. To direct treatment in leukemia and lymphoma
iii. To confirm a suspected Robertsonian translocation in the parent of a child with Down syndrome
iv. For a patient with global developmental delay
A. i only
B. i and ii
C. i, ii, and iv
D. ii, iii, and iv
C. i, ii, and iv
A 6-year-old male is referred for a family history of an unspecified muscular dystrophy in a maternal uncle. He is currently asymptomatic but blood analysis shows elevated creatine kinase. Genetic testing reveals an in-frame deletion within the DMD gene. This family should be counseled to anticipate:
A. Infertility
B. Rapidly progressive muscle disease with wheelchair use by age 12
C. Developmental regression
D. Potential heart failure
E. Tingling and/or numbness in the hands and feet
D. Potential heart failure
You are counseling a couple who have a newborn with a diagnosis of Down syndrome and a karyotype of 46, XX, rob (14;21)(q10;q10). The female in the above couple was found to be a balanced Robertsonian translocation carrier (14q21q) What is the recurrence risk for the couple to have a second child with Down syndrome?
A. Less than 2%
B. Between 10-15%
C. 25%
D. 50%
B. Between 10-15%
3. You meet with a patient who recently gave birth to a child with dysmorphic features, which most significantly include flattened facial features. In talking with her, she reveals that she had oligohydramnios during her pregnancy. Her child’s facial features are most likely due to a:
A. Malformation
B. Deformation
C. Dysplasia
D. Disruption
B. Deformation
You are seeing a patient for their first genetic counseling appointment. During contracting, you notice the patient seems uncomfortable and uninterested in the session. What do you say?
A. “I know you may rather not be here, but since you are, is there anything that you think would be beneficial for us to discuss?”
B. “Don’t worry the session won’t take that long, let’s just keep going.”
C. Ignore their discomfort and move through agenda and goal setting to set them at ease
D. “I would be uncomfortable in your shoes too, it’s definitely not easy to be here!”
A. “I know you may rather not be here, but since you are, is there anything that you think would be beneficial for us to discuss?”
An 82yo man has been referred by his primary care physician for a “strong family history of cancer”. His medical history is significant for lifelong smoker, liver cirrhosis (+ETOH), lung cancer at 78, and adrenal cancer dx at 81. He worked in a dry cleaning service for 42 years. His family history is significant for a brother who passed from lung cancer at 61 (+tobacco), a sister with kidney cancer at age 56 (+ETOH) (d.57), a sister with skin cancer (60s), a father with lung cancer (55 +tobacco), a paternal uncle with lung cancer (83 +ETOH), and a maternal aunt with throat cancer (74 +tobacco, +ETOH). He has one son who is healthy. Based on your risk assessment, your thoughts on offering genetic testing are:
A. Given the ages of onset, types of cancer, and other risk factors, genetic testing may not be very informative
B. He should be offered TP53 testing
C. He should be offered MEN2 testing
D. Both B and C
B. He should be offered TP53 testing
In MedGen clinic, Wendy sees a 20-year-old male patient who experiences episodes of dramatic increases in blood pressure and heart rate accompanied by vomiting, triggered during times of stress. He reports childhood history of motor delay and was recently diagnosed with “a rhythm problem”. Which information might lead Wendy to the diagnosis?
A. Family history of sudden death
B. Ashkenazi Jewish ancestry
C. Microarray
D. Immunoglobulin E (IgE) analysis
E. IQ test
B. Ashkenazi Jewish ancestry
You are seeing two siblings for a group session, a sister and a brother. Both had nonsyndromic cleft palate when they were born, and they are concerned about the risk to future children they may have. Which potential child is at HIGHEST risk to also have a cleft palate?
A. Sister’s son
B. Brother’s son
C. Sister’s daughter
D. Brother’s daughter
D. Brother's Daughter
Your 8-month old patient is being evaluated for Canavan Disease given his presentation of irritability and loss of developmental progression in addition to the muscle hypotonicity noted in his lower extremities. His parents are very eager to receive a diagnosis given the very concerning symptoms they have seen present in their child and the long wait=times for clinic appointments. Therefore, they press the biochemical geneticist to order both a lab work and molecular sequencing concurrently, especially given that the patients maternal aunt is currently pregnant and this information could be important in their pregnancy management. The physician you are working with is considering the idea and, given the patients Ashkenazi Jewish background suggests that you order a stat panel with the 3 common mutations in ______. The presence of these multiple mutations is an example of:
A. ASPA; allelic heterogeneity
B. ARSA; allelic heterogeneity
C. ASPA; locus heterogeneity
D. ARSA; locus heterogeneity
A. ASPA; allelic heterogeneity
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?
A. Summarizing
B. Feeling Reflection
C. Content and Feeling Reflection
D. Paraphrasing
C. Content and Feeling Reflection
A newborn female is seen by a genetic counselor for bilateral hypoplasia of the upper arms and an atrial septal defect. The most likely diagnosis is:
A. Holt-Oram syndrome
B. Noonan syndrome
C. Costello syndrome
D. Alagille syndrome
E. 22q11.2 duplication syndrome
A. Holt-Oram syndrome