Multiple Choice
The following picture depicts which of the following changes in chromosome structure?
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6. Chromosomal Variation
Chromosomal Rearrangements: Overview
1:32 minutesProblem 2
Textbook Question
Write a short essay that discusses five altered phenotypes that result from specific chromosomal aberrations.
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Identify and define the term 'chromosomal aberrations' to provide context. Chromosomal aberrations are structural or numerical changes in chromosomes that can lead to altered phenotypes. Examples include deletions, duplications, inversions, translocations, and aneuploidy.
Select five specific chromosomal aberrations to discuss. For example, you could choose Down syndrome (trisomy 21), Turner syndrome (monosomy X), Cri-du-chat syndrome (deletion on chromosome 5), chronic myeloid leukemia (translocation between chromosomes 9 and 22), and Charcot-Marie-Tooth disease type 1A (duplication on chromosome 17).
For each chromosomal aberration, describe the genetic change involved. For instance, in Down syndrome, explain that it results from the presence of an extra copy of chromosome 21 (trisomy 21). Use MathML to represent chromosomal notations, such as for a female with Down syndrome.
Discuss the altered phenotype associated with each chromosomal aberration. For example, in Cri-du-chat syndrome, describe the characteristic high-pitched cry, intellectual disability, and distinct facial features caused by the deletion on chromosome 5.
Conclude by summarizing how chromosomal aberrations can lead to diverse phenotypic changes and emphasize the importance of understanding these genetic changes for diagnosis and treatment. Highlight the role of genetic counseling in managing conditions caused by chromosomal aberrations.
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Key Concepts
Here are the essential concepts you must grasp in order to answer the question correctly.
Chromosomal Aberrations
Chromosomal aberrations refer to changes in the structure or number of chromosomes, which can lead to genetic disorders or altered phenotypes. These alterations can be classified into two main types: numerical aberrations, such as aneuploidy (an abnormal number of chromosomes), and structural aberrations, which involve breaks, deletions, duplications, or rearrangements of chromosome segments. Understanding these changes is crucial for analyzing their effects on phenotype.
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Phenotype
Phenotype is the observable physical or biochemical characteristics of an organism, determined by both genetic makeup (genotype) and environmental influences. Altered phenotypes resulting from chromosomal aberrations can manifest in various ways, such as changes in physical appearance, metabolic functions, or susceptibility to diseases. Recognizing how specific chromosomal changes lead to distinct phenotypic outcomes is essential for understanding genetic disorders.
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Examples of Altered Phenotypes
Altered phenotypes resulting from chromosomal aberrations can include conditions like Down syndrome, which is caused by trisomy 21, leading to characteristic facial features and developmental delays. Other examples include Turner syndrome, resulting from a missing X chromosome, and Klinefelter syndrome, caused by an extra X chromosome in males. Each of these conditions illustrates how specific chromosomal changes can lead to unique and identifiable phenotypic traits.
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