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Molecular Basis of Developmental Disorders

Description: Molecular Basis of Developmental Disorders Quiz
Number of Questions: 15
Created by:
Tags: genetics developmental disorders molecular biology
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Which of the following is NOT a common type of developmental disorder?

  1. Autism spectrum disorder

  2. Down syndrome

  3. Sickle cell anemia

  4. Fragile X syndrome

Show answer
Correct Option: C
Explanation:

Sickle cell anemia is a genetic blood disorder, not a developmental disorder.

What is the most common genetic cause of autism spectrum disorder?

  1. Single-gene mutations

  2. Copy number variations

  3. Trinucleotide repeat expansions

  4. Mitochondrial mutations

Show answer
Correct Option: B
Explanation:

Copy number variations, which are deletions or duplications of large segments of DNA, are the most common genetic cause of autism spectrum disorder.

Which of the following genes is associated with Down syndrome?

  1. Trisomy 21

  2. Trisomy 18

  3. Trisomy 13

  4. Monosomy X

Show answer
Correct Option: A
Explanation:

Down syndrome is caused by the presence of an extra copy of chromosome 21, known as trisomy 21.

What is the molecular basis of Fragile X syndrome?

  1. Expansion of a CGG trinucleotide repeat in the FMR1 gene

  2. Deletion of the FMR1 gene

  3. Mutation in the FMR1 gene

  4. Duplication of the FMR1 gene

Show answer
Correct Option: A
Explanation:

Fragile X syndrome is caused by the expansion of a CGG trinucleotide repeat in the FMR1 gene.

Which of the following is a neurotransmitter that is implicated in autism spectrum disorder?

  1. Serotonin

  2. Dopamine

  3. GABA

  4. Glutamate

Show answer
Correct Option: D
Explanation:

Glutamate is a neurotransmitter that is implicated in autism spectrum disorder.

What is the molecular basis of Rett syndrome?

  1. Mutation in the MECP2 gene

  2. Deletion of the MECP2 gene

  3. Duplication of the MECP2 gene

  4. Expansion of a CGG trinucleotide repeat in the MECP2 gene

Show answer
Correct Option: A
Explanation:

Rett syndrome is caused by mutations in the MECP2 gene.

Which of the following is a common treatment for autism spectrum disorder?

  1. Behavioral therapy

  2. Medication

  3. Special education

  4. All of the above

Show answer
Correct Option: D
Explanation:

All of the above are common treatments for autism spectrum disorder.

What is the molecular basis of Angelman syndrome?

  1. Deletion of the UBE3A gene

  2. Mutation in the UBE3A gene

  3. Duplication of the UBE3A gene

  4. Expansion of a CGG trinucleotide repeat in the UBE3A gene

Show answer
Correct Option: A
Explanation:

Angelman syndrome is caused by the deletion of the UBE3A gene.

Which of the following is a neurotransmitter that is implicated in Rett syndrome?

  1. Serotonin

  2. Dopamine

  3. GABA

  4. Glutamate

Show answer
Correct Option: C
Explanation:

GABA is a neurotransmitter that is implicated in Rett syndrome.

What is the molecular basis of Prader-Willi syndrome?

  1. Deletion of the SNRPN gene

  2. Mutation in the SNRPN gene

  3. Duplication of the SNRPN gene

  4. Expansion of a CGG trinucleotide repeat in the SNRPN gene

Show answer
Correct Option: A
Explanation:

Prader-Willi syndrome is caused by the deletion of the SNRPN gene.

Which of the following is a common treatment for Rett syndrome?

  1. Behavioral therapy

  2. Medication

  3. Special education

  4. All of the above

Show answer
Correct Option: D
Explanation:

All of the above are common treatments for Rett syndrome.

What is the molecular basis of Williams syndrome?

  1. Deletion of the ELN gene

  2. Mutation in the ELN gene

  3. Duplication of the ELN gene

  4. Expansion of a CGG trinucleotide repeat in the ELN gene

Show answer
Correct Option: A
Explanation:

Williams syndrome is caused by the deletion of the ELN gene.

Which of the following is a neurotransmitter that is implicated in Williams syndrome?

  1. Serotonin

  2. Dopamine

  3. GABA

  4. Glutamate

Show answer
Correct Option: B
Explanation:

Dopamine is a neurotransmitter that is implicated in Williams syndrome.

What is the molecular basis of DiGeorge syndrome?

  1. Deletion of the 22q11.2 region

  2. Mutation in the 22q11.2 region

  3. Duplication of the 22q11.2 region

  4. Expansion of a CGG trinucleotide repeat in the 22q11.2 region

Show answer
Correct Option: A
Explanation:

DiGeorge syndrome is caused by the deletion of the 22q11.2 region.

Which of the following is a common treatment for DiGeorge syndrome?

  1. Behavioral therapy

  2. Medication

  3. Special education

  4. All of the above

Show answer
Correct Option: D
Explanation:

All of the above are common treatments for DiGeorge syndrome.

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