Genetic Diseases Quiz

23 Questions | By 074604g | Last updated: Mar 22, 2022 | Total Attempts: 5177

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A quiz about the genetic disease required for mondays exam

Questions and Answers

1.

Name the mode of inheritance for Huntington Disease
- A.
  
  Autosomal Recessive
- B.
  
  Autosomal Dominant
- C.
  
  X-Linked Recessive
- D.
  
  X-Linked Dominant
2.

Name the mode of inheritance for Duchenne Muscular Dystrophy
- A.
  
  Autosomal Recessive
- B.
  
  Autosomal Dominant
- C.
  
  X-Linked Recessive
- D.
  
  X-Linked Dominant
3.

Name the mode of inheritance for Becker Muscular Dystrophy
- A.
  
  Autosomal Recessive
- B.
  
  Autosomal Dominant
- C.
  
  X-Linked Recessive
- D.
  
  X-Linked Dominant
4.

Name the mode of inheritance for Beta-Thalassemia
- A.
  
  Autosomal Recessive
- B.
  
  Autosomal Dominant
- C.
  
  X-Linked Recessive
- D.
  
  X-Linked Dominant
5.

Name the mode of inheritance for Osteogenesis Imperfecta
- A.
  
  Autosomal Recessive
- B.
  
  Autosomal Dominant
- C.
  
  X-Linked Recessive
- D.
  
  X-Linked Dominant
6.

Name the mode of inheritance for Alpha 1-antitrypsin deficiency
- A.
  
  Autosomal Recessive
- B.
  
  Autosomal Dominant
- C.
  
  X-Linked Recessive
- D.
  
  X-Linked Dominant
7.

Name the mode of inheritance for Cystic Fibrosis
- A.
  
  Autosomal Recessive
- B.
  
  Autosomal Dominant
- C.
  
  X-Linked Recessive
- D.
  
  X-Linked Dominant
8.

Name the mode of inheritance for Phenylketonuria
- A.
  
  Autosomal Recessive
- B.
  
  Autosomal Dominant
- C.
  
  X-Linked Recessive
- D.
  
  X-Linked Dominant
9.

This patient most likely has?
- A.
  
  Down Syndrome
- B.
  
  Patau Syndrome
- C.
  
  Edwards Syndrome
- D.
  
  Alejo Syndrome
10.

This patient has?
- A.
  
  Nothing, normal patient
- B.
  
  Kleinfelter Syndrome
- C.
  
  Turner Syndrome
- D.
  
  Patau Syndrome
11.

Patients with Kleinfelter Syndrome are typically female
- A.
  
  True
- B.
  
  False
12.

A patient (age 41) presents with jerky, random, and uncontrollable movements or chorea, Psychomotor functions have become increasingly impaired over the past few years, such that any action that requires muscle control is affected. Common consequences are physical instability, abnormal facial expression, and difficulties chewing, swallowing and speaking. The Patient has one parent who died at 44 after exhibiting similar symptoms. This patient may be exhibiting symptons of
- A.
  
  Cystic Fibrosis
- B.
  
  Huntingtons Diseas
- C.
  
  Muscular Dystrophy
- D.
  
  Beta-Thalassemia
13.

Huntingtons Disease results from a mutation in the Huntingtin gene
- A.
  
  True
- B.
  
  False
14.

Patient is a male child whose symptons began before age 5 and were visible in early infancy. Progressive proximal muscle weakness of the legs and pelvis associated with a loss of muscle mass was observed first. Eventually this weakness spreads to the arms, neck, and other areas. Early signs included pseudohypertrophy (enlargement of calf and deltoid muscles), low endurance, and difficulties in standing unaided or inability to ascend staircases. As the condition progressed, muscle tissue experienced wasting and was eventually replaced by fat and fibrotic tissue (fibrosis). By age 10, braces were required to aid in walking until the patient became wheelchair dependent by age 12. Later symptoms included abnormal bone development that lead to skeletal deformities, including curvature of the spine. Due to progressive deterioration of muscle, loss of movement occured, eventually leading to paralysis. This patient is potentially exhibiting symptoms of?
- A.
  
  Huntington Disease
- B.
  
  Duchenne Muscular Dystrohpy
- C.
  
  Cystic Fibrosis
- D.
  
  Familial Hypercholesterolemia
15.

Beckers muscular dystrophy is milder than Duchenne muscular dystrophy
- A.
  
  True
- B.
  
  False
16.

Which of the following syndromes is the most commonly known single gene cause of autism
- A.
  
  Fragile X syndrome
- B.
  
  Alpha 1-antitrypsin deficiency
- C.
  
  Prader-Willi Syndrome
- D.
  
  DiGeorge Syndrome
17.

Which of the following is a disease of Type 1 collagen?
- A.
  
  Osteogenesis imperfecta
- B.
  
  Muscular Dystrophy
- C.
  
  Cystic Fibrosis
- D.
  
  Prader-Willi Syndrome
18.

Patient presents with symptoms that include shortness of breath, wheezing, rhonchi, and rales. The patient's symptoms resemble recurrent respiratory infections or asthma that does not respond to treatment. Patient has before been labeled as COPD with no underlying cause. Patient developed emphysema during their thirties even without a history of significant smoking. Patient seems not particulary able to protect lungs from neutrophil elastase. This patient most likely has?
- A.
  
  Cystic Fibrosis
- B.
  
  DiGeorge Syndrome
- C.
  
  Alpha-1-Antitrypsin Deficiency
- D.
  
  Muscular Dystrophy
19.

An Irish patient presents with salty tasting skin,^[6] poor growth and poor weight gain despite a normal food intake,^[7] accumulation of thick, sticky mucus,^[8] frequent chest infections and coughing or shortness of breath. Genetic testing shows a mutation on both alleles of chromosome 7. This patient potentially has
- A.
  
  Cystic Fibrosis
- B.
  
  Muscular Dystrophy
- C.
  
  Huntingtons Disease
- D.
  
  Familial Hypercholestolemia
20.

A patient presents with high cholesterol levels, specifically very high levels of low-density lipoprotein (LDL, "bad cholesterol"), in the blood and early cardiovascular disease. Genetic analysis shows mutations in the LDLR gene that encodes the LDL receptor protein, This patient potentially has
- A.
  
  Cystic Fibrosis
- B.
  
  Muscular Dystrophy
- C.
  
  Huntingtons Disease
- D.
  
  Familial Hypercholestolemia
21.

Which is a rare genetic disorder in which seven genes (or some subset thereof) on chromosome 15 (q 11-13) are deleted or unexpressed (chromosome 15q partial deletion) on the paternal chromosome?
- A.
  
  Prader-Willi Syndrome
- B.
  
  Angleman's Syndrome
- C.
  
  DiGeorge Syndrome
- D.
  
  Duchenne Muscular Dystrophy
22.

Which syndrome is a syndrome caused by the deletion of a small piece ofchromosome 22. The deletion occurs near the middle of the chromosome at a location designated q11.2 i.e., on the long arm of one of the pair of chromosomes 22?
- A.
  
  DiGeorge Syndrome
- B.
  
  Prader-Willi Syndrome
- C.
  
  Kleinfelter Syndrome
- D.
  
  Familial Hypercholesterolemia
23.

Which disease in treated in part by a low-phenylalanine diet?
- A.
  
  Cystic Fibrosis
- B.
  
  Osteogenesis Imperfecta
- C.
  
  Familial Hypercholesterolemia
- D.
  
  Phenylketonuria