Quiz about Genetic Diseases 101
Quiz about Genetic Diseases 101

Genetic Diseases 101 Trivia Quiz


Test your knowledge on genetic diseases by choosing the disease that best fits the differential diagnosis.

A multiple-choice quiz by jbogacik. Estimated time: 6 mins.
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Author
jbogacik
Time
6 mins
Type
Multiple Choice
Quiz #
355,634
Updated
Dec 03 21
# Qns
10
Difficulty
Average
Avg Score
6 / 10
Plays
667
Awards
Top 35% Quiz
This quiz has 2 formats: you can play it as a or as shown below.
Scroll down to the bottom for the answer key.
1. This condition is characterized by an accumulation of thick mucus in multiple organs including the lungs and pancreas. People with the condition often have chronic respiratory disease and digestive problems. What disease is this? Hint

Cystic fibrosis
Maple syrup urine disease
Sickle cell anemia
Coronary artery disease

2. A pregnant woman has her fetal anatomy ultrasound at 20 weeks gestation, and her doctor tells her that her baby's arms and legs are shorter than expected. The femur and humerus measure less than the fifth percentile. Other ultrasound findings include a narrow thorax, a large head with a pronounced forehead, and hydrocephalus (increased fluid in the brain). What condition should the doctor inform the patient that her baby may have? Hint

Trisomy 13
Fetal hemolytic anemia
Treacher-Collins syndrome
Achondroplasia

3. Jordan, a 14-year-old male visits his doctor for a physical exam that is required by the basketball team prior to try outs. The basketball coach told Jordan he could be a great asset to the team because of his tall height. Jordan is already 6 foot 6 inches. In the medical history, the doctor learns that Jordan was diagnosed with dislocated lens of the eyes in the past year. During the physical exam, Jordan is noted to have unusually long fingers and a long arm span. He also has pectus excavatum (sunken chest). The doctor is suspicious of genetic disorder and sends him to a cardiologist who finds that Jordan has an enlarged aorta by echocardiography. What condition was the doctor suspicious of? Hint

Arrhythmogenic Right Ventricular Cardiomyopathy
Marfan syndrome
Long QT syndrome
Ventricular septal defect

4. What condition results in abnormally-shaped red blood cells, which can lead to anemia, fatigue, growth delay, jaundice, pain crises, frequent infections, pulmonary hypertension, and organ damage? Hint

Tay-Sachs disease
Diabetes mellitus
Hemophilia
Sickle cell disease

5. A 42-year-old pregnant woman goes in for her 20 week fetal anatomy ultrasound. Multiple major anomalies and soft markers are seen, including a heart defect, cleft lip, clenched hands, club feet, absent radial bones, growth restriction, and a small head size. The woman decides to have an amniocentesis. Fetal chromosome analysis came back abnormal. What condition does the baby most likely have? Hint

Trisomy 16
Trisomy 18
Trisomy 21 (Down syndrome)
Balanced chromosome translocation

6. Common features of this condition are chorea (involuntary movements and jerks), poor coordination, impaired judgement, depression, and cognitive decline. Symptoms typically begin in a person's thirties or forties with death occurring 15 to 20 years after onset. Pathologically, there is an accumulation of abnormal protein in neurons, resulting in neuronal death in areas of the brain. What condition best fits with this description? Hint

Charcot-Marie-Tooth disease
Asperger's syndrome
Myoclonic epilepsy
Huntington's disease

7. Alexis, a 38-year-old woman, was referred to a gastroenterologist because of abdominal pain, malaise, and rectal bleeding. A colonoscopy was performed, and three colon polyps were removed from the right side of the colon. The polyps were biopsied and found to be benign but with the potential of becoming cancerous. The doctor obtained a family history. Alexis' mother was diagnosed with endometrial cancer at 55, her maternal uncle was diagnosed with colon cancer at 51, and her maternal grandfather died of stomach cancer at 63. With this information, what condition should be in the differential diagnosis? Hint

No condition because Alexis does not have cancer
Hereditary breast and ovarian cancer syndrome (HBOC)
Hereditary non-polyposis colon cancer (Lynch syndrome)
No condition because the cancers in the family were probably sporadic

8. A pregnant woman receives her 20 week fetal anatomy ultrasound, which shows abnormal findings of the baby's skeleton. Multiple broken bones, limb shortening, and bowing of the bones are seen. Which condition should be included in the differential diagnosis? Hint

Down syndrome
Beckwith-Wiedemann syndrome
Spina bifida
Osteogenesis imperfecta

9. Kevin is a 11-year-old boy with progressive muscle weakness. His birth and newborn period were uncomplicated. In late infancy, Kevin started missing developmental milestones. His motor skills (sitting, standing, walking) were delayed. Symptoms critical to Kevin's diagnosis were calf enlargement, toe walking, and the Gowers' sign (a movement to standup where the child first places arms and knees on the ground and then moves the hands up the legs until an upright position is reached). What condition does Kevin most likely have? Hint

Cerebral palsy
Klinefelter syndrome
Paralysis
Duchenne muscular dystrophy

10. Jessica gave birth to a seemingly healthy baby girl Angela, but she just received the news that Angela's newborn screening results came back abnormal. Jessica attends an appointment with a medical geneticist who informs Jessica that Angela's condition can be treated with a strict diet low in protein. If untreated, Angela will likely develop permanent intellectual disability, epilepsy, and behavioral problems. Of the following choices, what condition has Angela been newly diagnosed with? Hint

Lactose intolerance
Phenylketonuria (PKU)
Turner syndrome
Androgen insensitivity


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Quiz Answer Key and Fun Facts
1. This condition is characterized by an accumulation of thick mucus in multiple organs including the lungs and pancreas. People with the condition often have chronic respiratory disease and digestive problems. What disease is this?

Answer: Cystic fibrosis

Cystic fibrosis (CF) is a common genetic disease, particularly among the Caucasian population. The severity of the condition is largely dependent on the type of mutations inherited. Features of classic CF include chronic respiratory disease, frequent lung infections, meconium ileus in infancy, pancreatic insufficiency, chronic digestive problems, poor growth, organ damage, and male infertility.
2. A pregnant woman has her fetal anatomy ultrasound at 20 weeks gestation, and her doctor tells her that her baby's arms and legs are shorter than expected. The femur and humerus measure less than the fifth percentile. Other ultrasound findings include a narrow thorax, a large head with a pronounced forehead, and hydrocephalus (increased fluid in the brain). What condition should the doctor inform the patient that her baby may have?

Answer: Achondroplasia

Achondroplasia is one of the most common forms of dwarfism. It is characterized by short stature with average trunk size and shortening of the limbs. Many health problems are associated with the disorder, including sleep apnea, obesity, bowed legs, scoliosis, and spinal compression.
3. Jordan, a 14-year-old male visits his doctor for a physical exam that is required by the basketball team prior to try outs. The basketball coach told Jordan he could be a great asset to the team because of his tall height. Jordan is already 6 foot 6 inches. In the medical history, the doctor learns that Jordan was diagnosed with dislocated lens of the eyes in the past year. During the physical exam, Jordan is noted to have unusually long fingers and a long arm span. He also has pectus excavatum (sunken chest). The doctor is suspicious of genetic disorder and sends him to a cardiologist who finds that Jordan has an enlarged aorta by echocardiography. What condition was the doctor suspicious of?

Answer: Marfan syndrome

Marfan syndrome is a multi-systemic connective tissue disorder, affecting the eyes, heart, skin, and skeleton. One of the most concerning features is an enlarged aorta, which can lead to a life-threatening aneurysm or dissection. Because of the heart involvement, people with Marfan syndrome are advised to avoid contact sports and strenuous exercise.
4. What condition results in abnormally-shaped red blood cells, which can lead to anemia, fatigue, growth delay, jaundice, pain crises, frequent infections, pulmonary hypertension, and organ damage?

Answer: Sickle cell disease

Sickle cell disease is an inherited hemoglobinopathy, which is caused by atypical and/or absent hemoglobin molecules. This disease is more common among people with African, Mediterranean, and Hispanic ancestries. Sickle cell anemia is a more severe form of the disease where normal hemoglobin is replaced with abnormal hemoglobin S, causing the sickling of red blood cells.
5. A 42-year-old pregnant woman goes in for her 20 week fetal anatomy ultrasound. Multiple major anomalies and soft markers are seen, including a heart defect, cleft lip, clenched hands, club feet, absent radial bones, growth restriction, and a small head size. The woman decides to have an amniocentesis. Fetal chromosome analysis came back abnormal. What condition does the baby most likely have?

Answer: Trisomy 18

Trisomy 18 is caused by having three copies of chromosome 18 rather than two copies. Any woman can have a child with a chromosome condition, but the chance increases as a woman ages. A 42-year-old woman in her second trimester has about a 1 in 150 chance of having a baby with Trisomy 18.
6. Common features of this condition are chorea (involuntary movements and jerks), poor coordination, impaired judgement, depression, and cognitive decline. Symptoms typically begin in a person's thirties or forties with death occurring 15 to 20 years after onset. Pathologically, there is an accumulation of abnormal protein in neurons, resulting in neuronal death in areas of the brain. What condition best fits with this description?

Answer: Huntington's disease

Huntington's disease is an inherited degenerative brain condition. When inherited through the father, the condition is often more progressive with an earlier onset in successive generations. This phenomenon is termed anticipation.
7. Alexis, a 38-year-old woman, was referred to a gastroenterologist because of abdominal pain, malaise, and rectal bleeding. A colonoscopy was performed, and three colon polyps were removed from the right side of the colon. The polyps were biopsied and found to be benign but with the potential of becoming cancerous. The doctor obtained a family history. Alexis' mother was diagnosed with endometrial cancer at 55, her maternal uncle was diagnosed with colon cancer at 51, and her maternal grandfather died of stomach cancer at 63. With this information, what condition should be in the differential diagnosis?

Answer: Hereditary non-polyposis colon cancer (Lynch syndrome)

Hereditary non-polyposis colon cancer (HNPCC), also known as Lynch syndrome, is an inherited predisposition to certain types of cancer. The most commonly associated cancer is colon cancer, but people with HNPCC are also at an increased risk for other cancers (stomach, liver, gallbladder, brain, skin, etc.). Women have a higher chance of developing endometrial cancer and ovarian cancer. Men are at risk for prostate cancer. People with HNPCC may develop colon polyps, which tend to appear earlier in age than expected.
8. A pregnant woman receives her 20 week fetal anatomy ultrasound, which shows abnormal findings of the baby's skeleton. Multiple broken bones, limb shortening, and bowing of the bones are seen. Which condition should be included in the differential diagnosis?

Answer: Osteogenesis imperfecta

Osteogenesis imperfecta (OI) is sometimes called "brittle bone" disease, and it affects bone formation. Many types of OI exist. Features of the disease may include multiple bone breaks from mild trauma or without cause, blue sclera of the eyes, hearing loss, short stature, and respiratory problems. The types of OI vary in severity from mild to lethal shortly after birth.
9. Kevin is a 11-year-old boy with progressive muscle weakness. His birth and newborn period were uncomplicated. In late infancy, Kevin started missing developmental milestones. His motor skills (sitting, standing, walking) were delayed. Symptoms critical to Kevin's diagnosis were calf enlargement, toe walking, and the Gowers' sign (a movement to standup where the child first places arms and knees on the ground and then moves the hands up the legs until an upright position is reached). What condition does Kevin most likely have?

Answer: Duchenne muscular dystrophy

Duchenne muscular dystrophy is a progressive muscle disease that primarily affects males as it is an X-linked condition. Symptoms typically begin in early childhood, and progressive muscle wasting ultimately leads to wheelchair-dependency and to death usually in the individual's twenties. Cardiomyopathy, a weakening and enlargement of the heart, typically occurs in adolescence and is the primary cause of death.
10. Jessica gave birth to a seemingly healthy baby girl Angela, but she just received the news that Angela's newborn screening results came back abnormal. Jessica attends an appointment with a medical geneticist who informs Jessica that Angela's condition can be treated with a strict diet low in protein. If untreated, Angela will likely develop permanent intellectual disability, epilepsy, and behavioral problems. Of the following choices, what condition has Angela been newly diagnosed with?

Answer: Phenylketonuria (PKU)

Phenylketonuria (PKU) is a metabolic disorder that is characterized by toxic levels of phenylalanine, an amino acid, in the blood. Most countries have PKU testing as part of their newborn screening so that diagnosis and treatment can occur early to avoid irreversible damage. Treatment involves a lifelong diet restricted in foods containing phenylalanine.
Source: Author jbogacik

This quiz was reviewed by FunTrivia editor WesleyCrusher before going online.
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