Human Genetics: Normal Karyotype and Genetic Defects

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

Both parents are normal but high incidence of consanguinity.

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

Autosomal dominant

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

Dominant

What are the sex chromosomes in a normal human karyotype?

<p>XX or XY</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</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%</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</p> Signup and view all the answers

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

<p>Down syndrome</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</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</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%</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</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</p> Signup and view all the answers

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

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

What is the incidence of Down syndrome?

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

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