5.1.3 Genetic Disorders

• Chromosome disorders are caused by mutations in a single gene.

  False
• Chromosomal disorders result from an abnormal number or structure of chromosomes
• Match the type of genetic disorder with an example:

  Single-gene disorders ↔️ Cystic fibrosis

  Chromosomal disorders ↔️ Down's syndrome

  Multifactorial disorders ↔️ Heart disease
• What is the role of mutations in genetic disorders?

  Changes or defects in genes
• What is the cause of Turner's syndrome in females?

  Missing or partially missing X chromosome
• Down's syndrome is characterized by intellectual disability, a rounded face, and short stature
• What is an example of a genetic disorder with dominant inheritance?

  Huntington's disease
• In dominant inheritance, the disorder is expressed if only one copy of the mutated gene is inherited


  True
• Steps in determining the likelihood of a genetic disorder appearing in future generations

  1️⃣ Identify the inheritance pattern

  2️⃣ Assess parental genotypes

  3️⃣ Calculate the probability of offspring genotypes
• What type of genetic disorder is caused by an abnormal number of chromosomes?

  Chromosomal disorder
• What type of disorder is caused by a combination of genetic and environmental factors?

  Multifactorial disorder
• Chromosomal disorders often result in significant developmental and health problems


  True
• The inheritance pattern of a genetic disorder determines its likelihood of appearing in future generations


  True
• Rank the effectiveness of genetic disorder treatment methods from highest to lowest potential for long-term cures

  1️⃣ Gene therapy

  2️⃣ Symptom management

  3️⃣ Lifestyle changes
• What are genetic disorders caused by?

  Abnormal genes or chromosomes
• Match the type of genetic disorder with its cause:

  Single-gene disorders ↔️ Mutation in a single gene

  Chromosomal disorders ↔️ Abnormal number or structure of chromosomes

  Multifactorial disorders ↔️ Combination of genetic and environmental factors
• The inheritance patterns of genetic disorders include dominant, recessive, and sex-linked inheritance.


  True
• What is a multifactorial disorder caused by?

  Combination of genetic and environmental factors
• Abnormal chromosomes can lead to chromosomal disorders like Down's syndrome.


  True
• Classify the inheritance patterns of genetic disorders:

  1️⃣ Dominant inheritance

  2️⃣ Recessive inheritance

  3️⃣ Sex-linked inheritance
• What is a common characteristic of Turner's syndrome in females?

  Infertility
• Recessive inheritance requires two copies of the mutated gene, one from each parent
• In recessive inheritance, the genetic disorder is expressed only if two copies of the mutated gene are inherited
• Genetic disorders are caused by abnormal genes or chromosomes

  True
• Match the genetic disorder type with an example:

  Single-gene disorder ↔️ Sickle cell disease

  Chromosomal disorder ↔️ Turner's syndrome

  Multifactorial disorder ↔️ Heart disease
• Match the chromosomal disorder with its cause:

  Down's Syndrome ↔️ Extra copy of chromosome 21

  Turner's Syndrome ↔️ Missing or partially missing X chromosome
• What are two examples of single-gene disorders?

  Cystic fibrosis and SCD
• What is a prenatal testing method used to detect genetic abnormalities during pregnancy?

  Amniocentesis
• Genetic testing raises concerns about privacy and consent


  True
• The main causes of genetic disorders include mutations, abnormal chromosomes, and a combination of genetic and environmental factors
• What are single-gene disorders caused by?

  Mutations in a single gene
• What are the three main types of genetic disorders?

  Single-gene, chromosomal, multifactorial
• Genetic disorders can be inherited through dominant, recessive, or sex-linked patterns
• Down's syndrome is caused by an extra copy of chromosome 21
• Which genetic disorder is caused by abnormal chromosomes?

  Down's syndrome
• Single-gene disorders can be inherited through dominant, recessive, or sex-linked patterns.


  True
• The inheritance patterns of genetic disorders can be classified into three main types
• Match the inheritance pattern with an example disorder:

  Dominant ↔️ Huntington's disease

  Recessive ↔️ Cystic fibrosis

  Sex-linked ↔️ Hemophilia
• Single-gene disorders are caused by a mutation in a single gene
• Abnormal chromosomes can result in chromosomal disorders such as Down's syndrome


  True