A 28-year-old man presents to your primary care office to establish care. He feels well but has not seen a physician in several years. Past medical history is notable for a chronic heart murmur and prior gonorrheal and chlamydial infections (both successfully treated with antibiotics). He was adopted as a young child and has never met his biological parents. A diastolic murmur, tall stature, and joint hypermobility are noted on physical exam. A photograph of the patient’s chest is shown below (Figure A: Pectus Carinatum). Which of the following etiologies best explains this patient’s heart murmur?

A 1-year-old girl is brought to the clinic for an annual wellness exam. The mother reports that she is beginning to walk and can say 4-5 words. She is eating well and is overall very healthy. The mother denies any significant concerns. A physical examination demonstrates a well-developed child with closed fontanelles, positive tracking, and normal reflexes. The child has several flat, hyperpigmented macules throughout her body as shown in Figure A (Cafe Au Lait). What other findings would you expect in the patient as she grows older?

A 50-year-old male presents to the dermatologist for a large, soft, cutaneous nerve sheath tumor on his right eyelid resulting in a vision deficit. On physical exam, hyperpigmented macules and numerous other tumors can be seen across his body along with freckling in the inguinal and axillary areas (Figure A & B). His past medical history is significant for loss of vision in his left eye due to an optic glioma at the age of 20. His family history is notable for several members on his mother's side (grandmother, mother, uncle, and brother) having a similar presentation. Genome analysis reveals that the gene is located on chromosome 17. Which of the following genes is most likely mutated?

A 27-year-old Caucasian man presents for a routine visit to his primary care physician. He does not have any complaints at this time. On physical exam he is noted to have numerous firm, rubbery nodules of varying sizes on his back (see Figure A). He also has small darkly pigmented spots on his irises as well as a hyperpigmented, macular skin lesion measuring 3x5 cm on his right medial thigh. Which of the following is a complication of this patient's genetic condition?

A 9-year-old boy is brought to the clinic by his parents to establish care. The family recently moved from Canada and would like to find a primary care physician to manage his various health concerns. The patient was diagnosed with autism spectrum disorder (ASD) at the age of 4 and has since been undergoing behavioral therapy with moderate success. However, the patient had his first seizure 1 year ago and has been having breakthrough seizures despite treatment with levetiracetam. The mother claims that he has “calcium in his brain” based on past computed tomography scans of the head. A physical examination demonstrates a timid boy with poor interaction and an unremarkable physical exam. A skin finding is present on the lower back and is shown in Figure A. Figure A demonstrates an area of thickened, elevated pebbly skin characteristic of a shagreen patch, which is a type of connective tissue hamartoma.

What mutation is responsible for causing this patient’s symptoms?

A 9-month-old boy was brought to the emergency department after his father saw his son moving abnormally. At first, the parent thought his child was being startled; however, he later began to think this was colic. The boy presents with contractions of the extensor muscles of the legs and the flexor muscles of neck and arms. These contractions are symmetric. The frightened parent said that these abnormal movements seem to occur in clusters, which are separated by a few seconds. Physical examination is significant for a hypopigmented area of the skin (Figure A: Ash Leaf Spots), which can be better visualized with ultraviolet light. Which of the following is most likely associated with this patient’s condition?

A 35-year-old female presents to her primary care physician with dull left flank pain that has increased in intensity over the last several weeks. She denies any associated symptoms, including nausea/vomiting, dizziness, fevers, or dysuria. Her vital signs are stable and within normal limits. Physical examination reveals an abnormal mass on palpation of the left flank. A CT scan of the abdomen is obtained and shown in Figure A (The arrows were placed by the radiologist to note the findings of interest). To confirm the diagnosis, percutaneous renal biopsy is carried out and shows renal angiomyolipoma. Which of the following diseases is most commonly associated with this patient's findings?

A 21-year-old female presents to the family physician with 3 weeks of headaches, sweating, and palpitations. Her BP was 160/125 mmHg, and a 24-hour urine test revealed elevated vanillylmandelic acid (VMA) and normetanephrine. Past medical history is notable for bilateral retinal hemangioblastomas, and family history is significant for three generations (patient, mother, and maternal grandfather) with similar symptoms. Genetic analysis revealed a mutation of a gene on chromosome 3p. Which of the following is the patient at risk of developing?

A 35-year-old man presents to his primary care physician complaining of blood in his urine. He has also has had changes in his vision over the last several months. He reports a family history of renal cancer. The patient undergoes an abdominal CT, which shows lesions suspicious for renal cell carcinoma on both kidneys. MRI of the brain shows the findings in Figure A. Fundoscopic examination reveals the finding shown in Figure B. Which of the following genetic defects does this patient most likely have?

A 23-year-old man presents to his primary care physician with 2 weeks of headache, palpitations, and excessive sweating. He has no past medical history and his family history is significant for clear cell renal cell carcinoma in his father as well as retinal hemangioblastomas in his older sister. On presentation his temperature is 99°F (37.2°C), blood pressure is 181/124 mmHg, pulse is 105/min, and respirations are 18/min. After administration of appropriate medications, he is taken emergently for surgical removal of a mass that was detected by abdominal computed tomography scan. A mutation on which of the following chromosomes would most likely be seen in this patient?