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Ch. 10 - Eukaryotic Chromosome Abnormalities and Molecular Organization
Sanders - Genetic Analysis: An Integrated Approach 3rd Edition
Sanders3rd EditionGenetic Analysis: An Integrated ApproachISBN: 9780135564172Not the one you use?Change textbook
Chapter 10, Problem 24d

A boy with Down syndrome (trisomy 21) has 46 chromosomes. His parents and his two older sisters have a normal phenotype, but each has 45 chromosomes.
What is the probability the next child of this couple will have a normal phenotype and have 46 chromosomes? Explain your answer.

Verified step by step guidance
1
Understand the genetic basis of the problem: Down syndrome (trisomy 21) occurs due to the presence of an extra copy of chromosome 21. The parents and siblings with 45 chromosomes likely have a balanced Robertsonian translocation involving chromosome 21, which does not affect their phenotype but can lead to unbalanced gametes during reproduction.
Determine the possible gametes produced by the parent with the Robertsonian translocation: A parent with a Robertsonian translocation involving chromosome 21 can produce gametes with (1) a normal chromosome 21, (2) a chromosome 21 fused with another chromosome (the translocation), or (3) no chromosome 21. These gametes can combine with the normal gametes from the other parent.
Analyze the possible zygote outcomes: When the gametes combine, the zygote can have (1) a normal chromosome count and phenotype, (2) trisomy 21 (Down syndrome), (3) monosomy 21 (lethal), or (4) a balanced translocation carrier with 45 chromosomes and a normal phenotype.
Focus on the desired outcome: The problem asks for the probability of the next child having a normal phenotype and 46 chromosomes. This outcome occurs when the gamete from the parent with the translocation contributes a normal chromosome 21, and the other parent contributes a normal chromosome 21.
Calculate the probability: Determine the proportion of gametes from the parent with the translocation that contribute a normal chromosome 21, and combine this with the probability of the other parent contributing a normal chromosome 21. Use this to calculate the overall probability of the desired outcome.

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Key Concepts

Here are the essential concepts you must grasp in order to answer the question correctly.

Chromosomal Abnormalities

Chromosomal abnormalities occur when there is a deviation from the normal number of chromosomes in a cell. In this case, Down syndrome is caused by trisomy 21, where an individual has three copies of chromosome 21 instead of the usual two. Understanding how these abnormalities arise is crucial for analyzing genetic conditions and their inheritance patterns.
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Mendelian Inheritance

Mendelian inheritance refers to the patterns of inheritance first described by Gregor Mendel, which include concepts such as dominant and recessive traits. In this scenario, the normal phenotype and chromosome count of the parents suggest that they may be carriers of a genetic trait, but do not express it. This concept helps in predicting the likelihood of traits being passed to offspring.
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Probability in Genetics

Probability in genetics involves calculating the likelihood of certain traits or genetic conditions being passed from parents to offspring. In this case, understanding the probability of the next child having a normal phenotype and 46 chromosomes requires knowledge of the genetic makeup of the parents and the potential combinations of alleles. This concept is essential for making informed predictions about genetic outcomes.
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Related Practice
Textbook Question

A boy with Down syndrome (trisomy 21) has 46 chromosomes. His parents and his two older sisters have a normal phenotype, but each has 45 chromosomes.

Explain how this is possible.

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Textbook Question

A boy with Down syndrome (trisomy 21) has 46 chromosomes. His parents and his two older sisters have a normal phenotype, but each has 45 chromosomes.

How many chromosomes do you expect to see in karyotypes of the parents?

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Textbook Question

A boy with Down syndrome (trisomy 21) has 46 chromosomes. His parents and his two older sisters have a normal phenotype, but each has 45 chromosomes.

What term best describes this kind of chromosome abnormality?

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Textbook Question

Experimental evidence demonstrates that the nucleosomes present in a cell after the completion of S phase are composed of some 'old' histone dimers and some newly synthesized histone dimers. Describe the general design for an experiment that uses a protein label such as ³⁵S to show that nucleosomes are often a mixture of old and new histone dimers following DNA replication.

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Textbook Question

DNase I cuts DNA that is not protected by bound proteins but is unable to cut DNA that is complexed with proteins. Human DNA is isolated, stripped of its nonhistone proteins, and mixed with DNase I. Samples are removed after 30 minutes, 1 hour, and 4 hours and run separately in gel electrophoresis. The resulting gel is stained to make all DNA fragments in it visible, and the results are shown in the figure. DNA fragment sizes in base pairs (bp) are estimated by the scale to the left of the gel. Examine the gel results and speculate why longer DNase I treatment produces different results.

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Textbook Question

DNase I cuts DNA that is not protected by bound proteins but is unable to cut DNA that is complexed with proteins. Human DNA is isolated, stripped of its nonhistone proteins, and mixed with DNase I. Samples are removed after 30 minutes, 1 hour, and 4 hours and run separately in gel electrophoresis. The resulting gel is stained to make all DNA fragments in it visible, and the results are shown in the figure. DNA fragment sizes in base pairs (bp) are estimated by the scale to the left of the gel. Draw a conclusion about the organization of chromatin in the human genome from this gel.

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