Genetic disorders Practice Questions

Question 1

A 25-year-old man with a genetic disorder presents for genetic counseling because he is concerned about the risk that any children he has will have the same disease as himself. Specifically, since childhood he has had difficulty breathing requiring bronchodilators, inhaled corticosteroids, and chest physiotherapy. He has also had diarrhea and malabsorption requiring enzyme replacement therapy. If his wife comes from a population where 1 in 10,000 people are affected by this same disorder, which of the following best represents the likelihood a child would be affected as well?

Accepted Answer

1%

Answer

0.01%

Answer

2%

Answer

0.5%

Answer

50%

Question 2

A 23-year-old woman and her husband come to a genetic counselor because she is concerned about the chance of having an inherited defect if they had a child. Family history reveals no significant family history in her husband; however, her sister had a son who has seizures, failure to thrive, and neurodegeneration. She does not remember the name of the disease but remembers that her nephew had sparse, brittle hair that kinked in odd directions. She does not think that any other members of her family including her sister's husband have had this disorder. If this couple had a son, what is the most likely chance that he would have the same disorder that affected the patient's nephew?

Accepted Answer

25%

Answer

100%

Answer

12.5%

Answer

50%

Answer

Close to 0%

Question 3

A 30-year-old man is brought into the emergency room for complaints of acute onset chest pain and shortness of breath. He has a history of mental retardation and lives at home with his adoptive parents. His parents inform you that he has not seen a doctor since he was adopted as child and that he currently takes no medications. The patient's temperature is 99.1°F (37.3°C), pulse is 108/min, blood pressure is 125/70 mmHg, respirations are 25/min, and oxygen saturation is 92% on 2L nasal cannula. Physical exam is notable for a tall, thin individual with high-arched feet and mild pectus excavatum. There is mild asymmetry in the lower extremities with discomfort to dorsiflexion of the larger leg. Lung auscultation reveals no abnormalities. What is the most appropriate next step in management?

Accepted Answer

Electrocardiogram

Answer

Chest radiograph

Answer

Serum blood test

Answer

Genetic testing

Answer

Angiogram

Question 4

A 3-year-old is brought to the pediatrician by his mother because she is concerned about recent changes to his behavior. She states that he has seemed to regress in his motor development and has been having occasional brief episodes of uncontrollable shaking. During the subsequent work up, a muscle biopsy is obtained which demonstrates red ragged fibers and a presumptive diagnosis of a genetic disease made. The mother asks if her other son will be affected. What should be the physician's response?

Accepted Answer

There is a 100% chance he will be affected, but the severity may be different

Answer

There is a 50% chance he will be affected

Answer

There is a 100% chance he will be affected, and the severity will be the same

Answer

There is a 25% chance he will be affected

Answer

He will be unaffected

Question 5

A 9-year-old boy is brought to the physician because his parents are concerned that he has been unable to keep up with his classmates at school. He is at the 4th percentile for height and at the 15th percentile for weight. Physical examination shows dysmorphic facial features. Psychologic testing shows impaired intellectual and adaptive functions. Genetic analysis shows a deletion of the long arm of chromosome 7. Which of the following is the most likely additional finding in this patient?

Accepted Answer

Supravalvular aortic stenosis

Answer

Absent thymus gland

Answer

Brushfield spots on the iris

Answer

Testicular enlargement

Answer

Hand flapping movements

Question 6

A 4-year-old boy is brought to a pediatrician by his parents for a consultation after his teacher complained about his inability to focus or make friends at school. They mention that the boy does not interact well with others at home, school, or daycare. On physical examination, his vital signs are stable with normal weight, height, and head circumference for his age and sex. His general examination and neurologic examination are completely normal. A recent audiological evaluation shows normal hearing, and intellectual disability has been ruled out by a clinical psychologist. Which of the following investigations is indicated as part of his diagnostic evaluation at present?

Accepted Answer

Autism spectrum disorder screening and developmental assessment

Answer

Magnetic resonance imaging (MRI) of brain

Answer

Electroencephalography

Answer

No further testing is needed

Answer

Positron Emission Tomography (PET) scanning of head

Question 7

A 4-year-old boy is brought to the pediatrician by his mother who is concerned about progressive leg weakness. His mother reports that the patient used to play outside with their neighbors for hours, but for the past few months she has seen him sitting on the sidewalk after 15 minutes because he’s too tired. The patient says his legs are “sleepy.” The patient’s mother has also had to remove the carpets from the house because the patient kept tripping over the edges. The mother reports that the patient is shy but cooperates well with his siblings and other children. He can say his first and last name and just started counting. His mother states he learned to fully walk by 15 months of age. He was hospitalized for bronchiolitis at 12 months of age, which resolved with supportive care. He had an uncomplicated orchiopexy surgery for undescended testes at 7 months of age. He has no other chronic medical conditions and takes no medications. He is up to date on his vaccinations including a flu vaccine 2 weeks ago. The patient’s mother has systemic lupus erythematous and his paternal uncle has dermatomyositis. On physical examination, bilateral calves are large in circumference compared to the thighs. Strength is 3/5 in bilateral quadriceps and 4/5 in bilateral calves. Sensation is intact. Achilles tendon reflexes are 1+ bilaterally. The patient can hop on one leg, but gets tired after 10 jumps. He has a slight waddling gait. Which of the following is the most appropriate test to confirm the diagnosis?

Accepted Answer

Genetic testing

Answer

Creatine kinase level

Answer

Muscle biopsy

Answer

Nerve conduction study

Answer

Acetylcholine receptor antibody level

Question 8

A 12-hour old male infant is seen in the newborn nursery. He was born full term by vaginal delivery to a 40-year-old G4P3-->4 mother. Her pregnancy and delivery were uncomplicated, notable only for declining genetic testing. On exam, her son has a flat face, a fold in the upper eyelid, palpebral fissures that appear to slant upwards, and small ears. The diagnostic test for her son’s most likely condition should be conducted during which of the following phases of the cell cycle?

Accepted Answer

Metaphase

Answer

S-phase

Answer

Anaphase

Answer

Prophase

Answer

Telophase

Question 9

A 2300-g (5.07-lb) male newborn is delivered at term to a 39-year-old woman. Examination shows a sloping forehead, a flat nasal bridge, increased interocular distance, low-set ears, a protruding tongue, a single palmar crease and an increased gap between the first and second toe. There are small white and brown spots in the periphery of both irises. The abdomen is distended. An x-ray of the abdomen shows two large air-filled spaces in the upper quadrant. This patient's condition is most likely associated with which of the following cardiac anomalies?

Accepted Answer

Atrioventricular septal defect

Answer

Tetralogy of Fallot

Answer

Atrial septal defect

Answer

Patent ductus arteriosus

Answer

Ventricular septal defect

Question 10

The medical student on the pediatric cardiology team is examining a 9-year-old girl who was referred by her primary care physician for unexplained hypertension. She is accompanied by her mother who reveals that the child is generally well but has been significantly less active than her peers for the past year. On exam, the medical student notes a thin girl in no apparent distress appearing slightly younger than stated age. Vital signs reveal a BP is 160/80, HR 80, RR 16. Physical exam is notable only for a clicking sound is noted around the time of systole but otherwise the cardiac exam is normal. Pedal pulses could not be palpated. Which of the following physical exam findings was most likely missed by both the medical student and primary care physician?

Accepted Answer

Webbed neck

Answer

Long philtrum

Answer

Prominent occiput

Answer

Cleft palate

Answer

Single palmar crease

Genetic disorders

Study Resources

Lessons

Questions

Flashcards

Lessons

Down syndrome

Turner syndrome

Klinefelter syndrome

22q11.2 deletion syndrome

Fragile X syndrome

Prader-Willi and Angelman syndromes

Inborn errors of metabolism

Cystic fibrosis

Muscular dystrophies

Genetic testing approaches

Genetic counseling principles

Newborn screening programs

Gene therapy updates

Practice Questions

Flashcards

About Genetic disorders for USMLE

Lessons in Genetic disorders

Master Genetic disorders