Human Genetics: Normal Karyotype and Genetic Defects
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Questions and Answers

In autosomal recessive inheritance, what are the characteristics of the parents?

  • One parent is affected, and the other is a carrier.
  • Both parents are normal but high incidence of consanguinity. (correct)
  • Both parents are affected.
  • Both parents are carriers of the disease.

Which pattern of Mendelian inheritance exhibits a 50% chance of the child being affected if one parent is diseased?

  • X-linked recessive
  • Autosomal dominant (correct)
  • X-linked dominant
  • Autosomal recessive

What is the mode of inheritance when only one mutant gene is sufficient to express the disease?

  • Autosomal
  • Recessive
  • X-linked
  • Dominant (correct)

What are the sex chromosomes in a normal human karyotype?

<p>XX or XY (A)</p> Signup and view all the answers

Which type of genetic defect results in a high incidence of consanguinity in the parents?

<p>Autosomal recessive inheritance (B)</p> Signup and view all the answers

In autosomal dominant inheritance, what percentage of chance does the child have of being affected if one parent is diseased?

<p>50% (C)</p> Signup and view all the answers

Which pattern of inheritance is characterized by mental retardation, mongoloid facies, and hypotonia due to the presence of three copies of chromosome 21?

<p>Chromosomal abnormalities (C)</p> Signup and view all the answers

What is the most common example of abnormalities of chromosomal number?

<p>Down syndrome (B)</p> Signup and view all the answers

What educational process seeks to assist affected and/or at-risk individuals to understand the nature of a genetic disorder, its transmission, and the options available to them in management and family planning?

<p>Genetic counseling (D)</p> Signup and view all the answers

Which parent is a carrier and normal in shape in the case of sex-linked recessive inheritance?

<p>The mother (A)</p> Signup and view all the answers

In sex-linked recessive inheritance, what percentage of carrier mother's sons will be affected by the disease?

<p>50% (D)</p> Signup and view all the answers

Which of the following is an example of a genetic disorder that follows sex-linked recessive inheritance?

<p>Hemophilia (D)</p> Signup and view all the answers

What is the rarity pattern of inheritance associated with examples like asthma and rheumatic fever?

<p>Multifactorial inheritance (C)</p> Signup and view all the answers

In chromosomal abnormalities, how many pairs of chromosomes are present in a human cell?

<p>23 pairs (C)</p> Signup and view all the answers

What is the incidence of Down syndrome?

<p>1 in 600 births (B)</p> Signup and view all the answers

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