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General Biology II: Changes in Chromosome Number

General Biology II
Changes in Chromosome Number
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table of contents
  1. Cover
  2. Title Page
  3. Copyright
  4. Table Of Contents
  5. Reference Information
  6. The Process of Science
  7. 3. Biological Molecules
  8. 4. Structure of DNA
  9. 5. DNA Replication
  10. 6. Protein Synthesis
    1. 6.1 What are proteins and what do they do?
    2. 6.2 What is a gene?
    3. 6.3 How do genes direct the production of proteins?
    4. 6.4 Transcription: from DNA to mRNA
    5. 6.5 Eukaryotic RNA Processing
    6. 6.6 Translation
    7. 6.7 The Genetic Code
    8. Optional Section - Micropigs
  11. 7. Mutations
    1. How Gene Mutations Occur
    2. Intro to Genetic Disorders
    3. Do all gene affect health and development?
    4. Types of Mutations
    5. Changes in Numbers of Genes
    6. Changes in Chromosome Number
    7. Complex Multifactorial Disorders
    8. Genetic Predispositions
    9. Genetics and Statistics
  12. Gene Regulation
    1. 8.1 Prokaryotic versus Eukaryotic Gene Expression
    2. 8.2 What is the epigenome?
    3. 8.3 Alternative RNA splicing
  13. 9. Biotechnology
    1. 9.1 Manipulating Genetic Material
    2. 9.2 Cloning
    3. 9.3 Genetic Engineering
    4. 9.4 Biotechnology in Medicine and Agriculture
    5. 9.5 Genomics and Proteomics
    6. 9.6 Applying Genomics
    7. 9.7 Proteomics
  14. 10. Cell Division - Binary Fission and Mitosis
    1. 10.1 Prokaryotic Cell Division
    2. 10.2 Eukaryotic Cell Division
    3. 10.3 Control of the Cell Cycle
    4. 10.4 Cancer and the Cell Cycle
  15. 11. Meiosis
    1. 11.1 Sexual Reproduction
    2. 11.2 Overview of Meiosis
    3. 11.3 Interphase
    4. 11.4 Meiosis I
    5. 11.5 Meiosis II
    6. 11.6 Comparing Meiosis and Mitosis
    7. 11.7 Errors in Meiosis
  16. 12. Patterns of Inheritance
    1. 12.1 Mendelian Genetics
    2. 12.2 Garden Pea Characteristics Revealed the Basics of Heredity
    3. 12.3 Phenotypes and Genotypes
    4. 12.4 Monohybrid Cross and the Punnett Square
    5. 12.5 Laws of Inheritance
    6. 12.6 Extensions of the Laws of Inheritance
    7. 12.7 Multiple Alleles
    8. 12.8 Sex-Linked Traits
    9. 12.9 Linked Genes Violate the Law of Independent Assortment
    10. 12.10 Epistasis
  17. Genetics: Dog Coat Color
    1. Introduction to Genetics
    2. Pedigrees and Punnett Squares
    3. Black fur color: a dominant trait
    4. Yellow fur color: a recessive trait
    5. Epistasis: the relationship between black, brown, and yellow fur
    6. Brindle color: partial dominance and epistasis
    7. Incomplete dominance: when traits blend
    8. White spotting: When there's more than two alleles
    9. Hemophilia: a sex-linked disorder
    10. Overall phenotypes: putting it all together
    11. Additional complexity
    12. It's not all in the genes

Changes in Chromosome Number

Human cells normally contain 23 pairs of chromosomes, for a total of 46 chromosomes in each cell. A change in the number of chromosomes can cause problems with growth, development, and function of the body’s systems. These changes can occur during the formation of reproductive cells (eggs and sperm), in early fetal development, or in any cell after birth. A gain or loss of chromosomes from the normal 46 is called aneuploidy.

A common form of aneuploidy is trisomy, or the presence of an extra chromosome in cells. “Tri-” is Greek for “three”; people with trisomy have three copies of a particular chromosome in cells instead of the normal two copies. Down syndrome is an example of a condition caused by trisomy. People with Down syndrome typically have three copies of chromosome 21 in each cell, for a total of 47 chromosomes per cell.

Trisomy13
Figure: This karyotype, which is a picture of all the chromosomes from one individual, is from a person who has Trisomy 13.

Monosomy, or the loss of one chromosome in cells, is another kind of aneuploidy. “Mono-” is Greek for “one”; people with monosomy have one copy of a particular chromosome in cells instead of the normal two copies. Turner syndrome is a condition caused by monosomy. Women with Turner syndrome usually have only one copy of the X chromosome in every cell, for a total of 45 chromosomes per cell.

Rarely, some cells end up with complete extra sets of chromosomes. Cells with one additional set of chromosomes, for a total of 69 chromosomes, are called triploid. Cells with two additional sets of chromosomes, for a total of 92 chromosomes, are called tetraploid. A condition in which every cell in the body has an extra set of chromosomes is not compatible with life.

05.Haploid,_diploid_,triploid_and_tetraploid
Figure: “Ploid” refers to the number of copies of each chromosome found in a somatic cell.
strawberry
Figure: Human and other animal cells do not develop if they have an entire extra set of chromosomes. In contrast, plants often have entire copied sets of chromosomes. This strawberry is an example of a plant that is tetraploid.

In some cases, a change in the number of chromosomes occurs only in certain cells. When an individual has two or more cell populations with a different chromosomal makeup, this situation is called chromosomal mosaicism. Chromosomal mosaicism occurs from an error in cell division in cells other than eggs and sperm. Most commonly, some cells end up with one extra or missing chromosome (for a total of 45 or 47 chromosomes per cell), while other cells have the usual 46 chromosomes. Mosaic Turner syndrome is one example of chromosomal mosaicism. In females with this condition, some cells have 45 chromosomes because they are missing one copy of the X chromosome, while other cells have the usual number of chromosomes.

Many cancer cells also have changes in their number of chromosomes. These changes are not inherited; they occur in somatic cells (cells other than eggs or sperm) during the formation or progression of a cancerous tumor.

References

“Mutations and Health” by U.S. National Library of Medicine is in the Public Domain

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Copyright © 2016 by Lisa Bartee and Christine Anderson. Mt Hood Community College Biology 102 by Lisa Bartee and Christine Anderson is licensed under a Creative Commons Attribution 4.0 International License, except where otherwise noted.
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