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P o i n t & C h r o m o s o m a l M u t a t i o n s
Students collectively define and connect
key terms on the board, forming a chain
of explanations. Each student adds to the
chain by linking terms and explaining
their relationships. The class reviews the
chain to clarify connections and enhance
comprehension of the topic.
DNA, the blueprint for life, contains genes that act like instructions.
These genes are passed down from parents to offspring through
inheritance, determining the traits an organism inherits.
Chromosomes, tightly coiled strands of DNA, house our genes,
which are the instructions for our traits. During reproduction, these
chromosomes are shuffled and halved, with one set coming from
each parent. This unique combination of genes passed on
determines the characteristics of the offspring.
Students will be watching a video about
Fetal Alcohol Syndrome and their
manifestations in the human body. After
that they will create a T-chart analysis
answering the following questions:
a. What is the genetic disorder
discussed in the video and in the
article? How do they manifest in
individuals?
b. What specific genetic mutation
causes the disorder and what is
believed to be the psychoactive
substance causing the mutation?
c. How do genetic disorders impact the
lives of individuals and their families,
both medically and emotionally?
MELC: Explain how mutations may cause changes in the
structure and function of a protein (S10LT-llle-38)
1.) Identify types of gene mutations and explain how each
mutation can potentially impact the resulting protein and,
consequently, the organism's characteristics.
2.) Create informative presentation explaining the concept
of gene mutations and their potential effects on organisms.
3.) Engage in a respectful exchange of arguments about
whole genome sequencing (WGS) on fetal cells,
considering the potential benefits and risks based on
scientific evidence.
Each group will be given worksheets that
includes the article about their assigned
topic and the guide questions that they
will answer to check their understanding.
Group 1: Sickle Cell Anemia
Group 2: Beta Thalassemia
Group 3: Cystic Fibrosis
Group 4: Opitz-Kaveggia syndrome
Group 5: Cancer
Group 6: Leukemia
They will then create a chart presenting
what they have learned from activity. The
contents of the chart are indicated below:
a.) Name of the disorder/disease
b.) Cause (Genetic Mutation)
c.) Effects (Signs and Symptoms)
Reminders:
1. You'll have a set amount of time at each station.
Read the information, look at any visuals, and
answer the guide questions.
2. Take notes on what you find interesting,
important, or confusing. Discuss your observations
with your group members at the station.
3. When the time is up, quietly move to the next
station as a group, following the designated route or
station numbers.
GUIDE QUESTIONS:
1.) How do the causes of these mutations (e.g.,
type of mutation, affected gene) differ from your
assigned disorder?
2.) Review the cause-and-effect sections of the
other groups' charts. Are the effects of the
mutations clearly explained? Do the charts
provide enough information to understand how
the mutation impacts a person?
3.) Has this activity changed your understanding
of the diversity of genetic mutation disorders?
Explain why or why not.
Mutations, or changes in the nucleotide sequence of the
DNA can happen during replication, transcription, or
translation. These damaged DNA is formed either by
substitution, deletion, or insertion of base pairs. A
change in DNA structure will ultimately change protein
structures which changes its function. Mutations are
commonly harmless, but sometimes, they lead to cell
death or tumor formations.
Mutations may be caused by the following: errors in DNA
replication process, chemical damages to the DNA
because of mutagens or chemicals that are capable of
damaging DNA, and radiation such as ionizing radiations
of gamma rays, x-rays, or even UV light.
Germline mutations occur in gametes, the sex cells, such as
eggs and sperm. These mutations are especially significant
because they can be transmitted to offspring and every cell in
the offspring will have the mutations.
Somatic mutations occur in other cells of the body. These
mutations may have little effect on the organism because they
are confined to just one cell and its daughter cells. Somatic
mutations also cannot be passed on to offspring.
There are a variety of types of mutations. Two major categories of mutations are
germline mutations and somatic mutations.
Chromosomal alterations are mutations that change
chromosome structure or number. They occur when a section
of a chromosome breaks off and rejoins incorrectly or does not
rejoin at all. Chromosomal alterations are very serious. They
often result in the death of the organism in which they occur.
If the organism survives, it may be affected in multiple ways.
Mutations also differ in the way that the genetic material is changed. Mutations may
change an entire chromosome or just one or a few nucleotides.
A point mutation is a change in a single nucleotide in DNA. This
type of mutation is usually less serious than a chromosomal
alteration. An example of a point mutation is a mutation that
changes the codon UUU to the codon UCU. Point mutations can
be silent, missense, or nonsense mutations. The effects of
point mutations depend on how they change the genetic code.
Mutations also differ in the way that the genetic material is changed. Mutations may
change an entire chromosome or just one or a few nucleotides.
Mutations also differ in the way that the genetic material is changed. Mutations may
change an entire chromosome or just one or a few nucleotides.
A frameshift mutation is a deletion or insertion of one or more
nucleotides that changes the reading frame of the base
sequence. Deletions remove nucleotides, and insertions add
nucleotides.
Mutations also differ in the way that the genetic material is changed. Mutations may
change an entire chromosome or just one or a few nucleotides.
AUG-AAU-ACG-GCU = methionine-asparagine-threonine-alanine
Now assume that an insertion occurs in this sequence. Let’s say an
A nucleotide is inserted after the start codon AUG. Then the
sequence of bases becomes:
AUG-AAA-UAC-GGC-U = methionine-lysine-tyrosine-glycine
Even though the rest of the sequence is unchanged, this insertion
changes the reading frame and thus all of the codons that follow it.
As this example shows, a frameshift mutation can dramatically
change how the codons in mRNA are read. This can have a drastic
effect on the protein product.
After each group have learned the assigned genetic
disorder from other groups and answered the guide
questions, based on their understanding of the
implications of gene mutation and how mutations
may cause changes in the structure and function of a
protein, students will write a claim answering the
essential question of the day and they will provide
evidence that will serve as their reason for writing
their claims.
CER (Claim-Evidence-Reasoning)
Essential Question of the day
Should all expectant parents undergo
whole genome sequencing (WGS) for
genetic mutations in their fetus, and if
a serious genetic disorder is detected,
should they have the right to
terminate the pregnancy?
CER (Claim-Evidence-Reasoning)
Whole genome sequencing (WGS)
CER (Claim-Evidence-Reasoning)
Whole-genome sequencing (WGS) is a
comprehensive method for analyzing entire
genomes. Genomic information has been
instrumental in identifying inherited disorders,
characterizing the mutations that drive cancer
progression, and tracking disease outbreaks.
Increased immunity Adaptation to environment
Mutations in certain genes can
enhance an organism's immune
system, making it more resistant
to specific diseases or
infections. For instance, a
mutation in a gene called CCR5
can make some people resistant
to HIV infection.
Mutations can allow organisms to
adapt to changes in their
environment. For example, the
peppered moth in England changed
its coloration from light to dark
during the Industrial Revolution due
to a mutation. This darker coloration
provided camouflage against the
sooty environment, increasing their
survival rate.
Lactose tolerance Sickle cell trait
The ability to digest lactose (milk
sugar) as adults is a result of a
mutation that arose in some
human populations. This
mutation allowed them to
continue consuming milk
beyond infancy, providing an
additional source of nutrients.
While sickle cell disease is a serious
genetic disorder, inheriting one copy
of the mutated gene (sickle cell trait)
can be beneficial in some regions.
This trait offers some protection
against malaria, a deadly parasitic
disease.
This is a specific strategy where
students are presented with a prompt
or image, then individually brainstorm
what they see, what they think about
it, and what they wonder about the
connections to other concepts.
See-Think-Wonder
Sentence Frames:
"Looking at the pictures in order, it seems like picture A shows _______, then picture B shows _______, which leads
to _______ in picture C."
"The sequence of the pictures suggests that _______ (event in picture A) causes _______ (event in picture B), and
ultimately results in _______ (event in picture C)."
"Picture A and picture B seem to be connected because _______ (detail in picture A) affects _______ (detail in picture
B). This likely leads to _______ (what picture C shows)."
"Although the pictures seem different at first glance, they all connect to the theme of _______ because _______ (detail
in picture A) relates to _______ (detail in picture B), and they both contribute to _______ (theme in picture C)."
Sentence Frames:
"Looking at the pictures in order, it seems like picture A shows _______, then picture B shows _______, which leads
to _______ in picture C."
"The sequence of the pictures suggests that _______ (event in picture A) causes _______ (event in picture B), and
ultimately results in _______ (event in picture C)."
"Picture A and picture B seem to be connected because _______ (detail in picture A) affects _______ (detail in picture
B). This likely leads to _______ (what picture C shows)."
"Although the pictures seem different at first glance, they all connect to the theme of _______ because _______ (detail
in picture A) relates to _______ (detail in picture B), and they both contribute to _______ (theme in picture C)."
MELC: Explain how mutations may cause changes in the
structure and function of a protein (S10LT-llle-38)
1.) Identify types of gene mutations and explain how each
mutation can potentially impact the resulting protein and,
consequently, the organism's characteristics.
2.) Create informative presentation explaining the concept
of gene mutations and their potential effects on organisms.
3.) Engage in a respectful exchange of arguments about
whole genome sequencing (WGS) on fetal cells,
considering the potential benefits and risks based on
scientific evidence.
This quiz is your chance to showcase your learning! Read each
multiple-choice question thoroughly and take your time. Recall the
important ideas and terms we discussed in class. Remember to
answer honestly and independently – everyone learns at their own
pace. Good luck!
Psychoactive substances are chemicals that alter mood, perception, and behavior. They
can be legal (caffeine, nicotine) or illegal (cocaine, heroin). These substances can have a
significant impact on the human body, including the brain and nervous system. This
assignment will explore the potential effects of psychoactive substances on human genes.
1. Choose a specific psychoactive substance (legal or illegal) and research its potential
effects on the human genome.
2. Focus on current scientific studies exploring if and how this substance might cause
mutations in genes.
3. Write a summary (2-3 paragraphs) of your findings, including:
The chosen substance and its general effects.
Specific details about the potential for mutations (types of mutations, affected
genes, etc.) based on your research.
Cite the sources you used (scientific articles, credible websites).
D o y o u h a v e a n y q u e s t i o n s ?
DNA acts as the master plan, storing the instructions for building
proteins. RNA serves as the messenger, carrying this information
from DNA to the protein-building machinery. Proteins, the
workhorses of the cell, perform most cellular functions based on the
instructions they receive.
SUGAR
Nucleotides are the basic units of DNA, composed of a
phosphate group (P), a sugar (deoxyribose), and a nitrogenous
base (A, C, G, or T) that encodes genetic information.
P
DNA is the molecule that forms genes, and multiple genes are grouped into
chromosomes. Chromosomes are present in the nucleus of every cell and
contain all the genetic information of an organism.
Chromosome
Chromosomes are structures formed by DNA and
proteins that house multiple genes in the cell nucleus.
Genes
Genes are segments of DNA that contain instructions
for protein synthesis and determine hereditary traits.
19th Century
A scientist conducted
experiments with peas that
revealed patterns of
inheritance. However, he did
not know that these patterns
were related to DNA.
20th Century
In the 20th century, it was
discovered that DNA is the
molecule that carries genetic
information. This revolutionized
genetics and biology.
At present
DNA sequencing and
genetic engineering
enable a deep study of
genes and their influence
on inheritance.
This is the biological process through which
organisms transmit genetic traits, such as
physical traits and behavior patterns, to their
offspring by transferring genetic material,
which may include DNA or RNA in the case
of various organisms.
This transmission of genetic information
contributes to the continuity and diversity
of species on Earth.
Genetic transmission
Inheritance involves the transmission of genetic
information from parents to offspring, determining
characteristics in the progeny.
Diversity of traits
Through inheritance, biological traits are perpetuated
and diversified in all species on Earth.
Continuity of species
Inheritance is essential for the continuity and
adaptation of species over generations.

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Gene-Mutation-COT-3-Science10 Lesson.pptx

  • 1. P o i n t & C h r o m o s o m a l M u t a t i o n s
  • 2. Students collectively define and connect key terms on the board, forming a chain of explanations. Each student adds to the chain by linking terms and explaining their relationships. The class reviews the chain to clarify connections and enhance comprehension of the topic.
  • 3. DNA, the blueprint for life, contains genes that act like instructions. These genes are passed down from parents to offspring through inheritance, determining the traits an organism inherits.
  • 4. Chromosomes, tightly coiled strands of DNA, house our genes, which are the instructions for our traits. During reproduction, these chromosomes are shuffled and halved, with one set coming from each parent. This unique combination of genes passed on determines the characteristics of the offspring.
  • 5. Students will be watching a video about Fetal Alcohol Syndrome and their manifestations in the human body. After that they will create a T-chart analysis answering the following questions:
  • 6. a. What is the genetic disorder discussed in the video and in the article? How do they manifest in individuals? b. What specific genetic mutation causes the disorder and what is believed to be the psychoactive substance causing the mutation? c. How do genetic disorders impact the lives of individuals and their families, both medically and emotionally?
  • 7.
  • 8. MELC: Explain how mutations may cause changes in the structure and function of a protein (S10LT-llle-38) 1.) Identify types of gene mutations and explain how each mutation can potentially impact the resulting protein and, consequently, the organism's characteristics. 2.) Create informative presentation explaining the concept of gene mutations and their potential effects on organisms. 3.) Engage in a respectful exchange of arguments about whole genome sequencing (WGS) on fetal cells, considering the potential benefits and risks based on scientific evidence.
  • 9. Each group will be given worksheets that includes the article about their assigned topic and the guide questions that they will answer to check their understanding. Group 1: Sickle Cell Anemia Group 2: Beta Thalassemia Group 3: Cystic Fibrosis Group 4: Opitz-Kaveggia syndrome Group 5: Cancer Group 6: Leukemia
  • 10. They will then create a chart presenting what they have learned from activity. The contents of the chart are indicated below: a.) Name of the disorder/disease b.) Cause (Genetic Mutation) c.) Effects (Signs and Symptoms)
  • 11. Reminders: 1. You'll have a set amount of time at each station. Read the information, look at any visuals, and answer the guide questions. 2. Take notes on what you find interesting, important, or confusing. Discuss your observations with your group members at the station. 3. When the time is up, quietly move to the next station as a group, following the designated route or station numbers.
  • 12. GUIDE QUESTIONS: 1.) How do the causes of these mutations (e.g., type of mutation, affected gene) differ from your assigned disorder? 2.) Review the cause-and-effect sections of the other groups' charts. Are the effects of the mutations clearly explained? Do the charts provide enough information to understand how the mutation impacts a person? 3.) Has this activity changed your understanding of the diversity of genetic mutation disorders? Explain why or why not.
  • 13.
  • 14. Mutations, or changes in the nucleotide sequence of the DNA can happen during replication, transcription, or translation. These damaged DNA is formed either by substitution, deletion, or insertion of base pairs. A change in DNA structure will ultimately change protein structures which changes its function. Mutations are commonly harmless, but sometimes, they lead to cell death or tumor formations.
  • 15. Mutations may be caused by the following: errors in DNA replication process, chemical damages to the DNA because of mutagens or chemicals that are capable of damaging DNA, and radiation such as ionizing radiations of gamma rays, x-rays, or even UV light.
  • 16.
  • 17. Germline mutations occur in gametes, the sex cells, such as eggs and sperm. These mutations are especially significant because they can be transmitted to offspring and every cell in the offspring will have the mutations. Somatic mutations occur in other cells of the body. These mutations may have little effect on the organism because they are confined to just one cell and its daughter cells. Somatic mutations also cannot be passed on to offspring. There are a variety of types of mutations. Two major categories of mutations are germline mutations and somatic mutations.
  • 18. Chromosomal alterations are mutations that change chromosome structure or number. They occur when a section of a chromosome breaks off and rejoins incorrectly or does not rejoin at all. Chromosomal alterations are very serious. They often result in the death of the organism in which they occur. If the organism survives, it may be affected in multiple ways. Mutations also differ in the way that the genetic material is changed. Mutations may change an entire chromosome or just one or a few nucleotides.
  • 19.
  • 20. A point mutation is a change in a single nucleotide in DNA. This type of mutation is usually less serious than a chromosomal alteration. An example of a point mutation is a mutation that changes the codon UUU to the codon UCU. Point mutations can be silent, missense, or nonsense mutations. The effects of point mutations depend on how they change the genetic code. Mutations also differ in the way that the genetic material is changed. Mutations may change an entire chromosome or just one or a few nucleotides.
  • 21. Mutations also differ in the way that the genetic material is changed. Mutations may change an entire chromosome or just one or a few nucleotides.
  • 22.
  • 23. A frameshift mutation is a deletion or insertion of one or more nucleotides that changes the reading frame of the base sequence. Deletions remove nucleotides, and insertions add nucleotides. Mutations also differ in the way that the genetic material is changed. Mutations may change an entire chromosome or just one or a few nucleotides.
  • 24. AUG-AAU-ACG-GCU = methionine-asparagine-threonine-alanine Now assume that an insertion occurs in this sequence. Let’s say an A nucleotide is inserted after the start codon AUG. Then the sequence of bases becomes: AUG-AAA-UAC-GGC-U = methionine-lysine-tyrosine-glycine Even though the rest of the sequence is unchanged, this insertion changes the reading frame and thus all of the codons that follow it. As this example shows, a frameshift mutation can dramatically change how the codons in mRNA are read. This can have a drastic effect on the protein product.
  • 25. After each group have learned the assigned genetic disorder from other groups and answered the guide questions, based on their understanding of the implications of gene mutation and how mutations may cause changes in the structure and function of a protein, students will write a claim answering the essential question of the day and they will provide evidence that will serve as their reason for writing their claims. CER (Claim-Evidence-Reasoning)
  • 26. Essential Question of the day Should all expectant parents undergo whole genome sequencing (WGS) for genetic mutations in their fetus, and if a serious genetic disorder is detected, should they have the right to terminate the pregnancy? CER (Claim-Evidence-Reasoning)
  • 27. Whole genome sequencing (WGS) CER (Claim-Evidence-Reasoning) Whole-genome sequencing (WGS) is a comprehensive method for analyzing entire genomes. Genomic information has been instrumental in identifying inherited disorders, characterizing the mutations that drive cancer progression, and tracking disease outbreaks.
  • 28.
  • 29. Increased immunity Adaptation to environment Mutations in certain genes can enhance an organism's immune system, making it more resistant to specific diseases or infections. For instance, a mutation in a gene called CCR5 can make some people resistant to HIV infection. Mutations can allow organisms to adapt to changes in their environment. For example, the peppered moth in England changed its coloration from light to dark during the Industrial Revolution due to a mutation. This darker coloration provided camouflage against the sooty environment, increasing their survival rate.
  • 30. Lactose tolerance Sickle cell trait The ability to digest lactose (milk sugar) as adults is a result of a mutation that arose in some human populations. This mutation allowed them to continue consuming milk beyond infancy, providing an additional source of nutrients. While sickle cell disease is a serious genetic disorder, inheriting one copy of the mutated gene (sickle cell trait) can be beneficial in some regions. This trait offers some protection against malaria, a deadly parasitic disease.
  • 31. This is a specific strategy where students are presented with a prompt or image, then individually brainstorm what they see, what they think about it, and what they wonder about the connections to other concepts. See-Think-Wonder
  • 32. Sentence Frames: "Looking at the pictures in order, it seems like picture A shows _______, then picture B shows _______, which leads to _______ in picture C." "The sequence of the pictures suggests that _______ (event in picture A) causes _______ (event in picture B), and ultimately results in _______ (event in picture C)." "Picture A and picture B seem to be connected because _______ (detail in picture A) affects _______ (detail in picture B). This likely leads to _______ (what picture C shows)." "Although the pictures seem different at first glance, they all connect to the theme of _______ because _______ (detail in picture A) relates to _______ (detail in picture B), and they both contribute to _______ (theme in picture C)."
  • 33. Sentence Frames: "Looking at the pictures in order, it seems like picture A shows _______, then picture B shows _______, which leads to _______ in picture C." "The sequence of the pictures suggests that _______ (event in picture A) causes _______ (event in picture B), and ultimately results in _______ (event in picture C)." "Picture A and picture B seem to be connected because _______ (detail in picture A) affects _______ (detail in picture B). This likely leads to _______ (what picture C shows)." "Although the pictures seem different at first glance, they all connect to the theme of _______ because _______ (detail in picture A) relates to _______ (detail in picture B), and they both contribute to _______ (theme in picture C)."
  • 34. MELC: Explain how mutations may cause changes in the structure and function of a protein (S10LT-llle-38) 1.) Identify types of gene mutations and explain how each mutation can potentially impact the resulting protein and, consequently, the organism's characteristics. 2.) Create informative presentation explaining the concept of gene mutations and their potential effects on organisms. 3.) Engage in a respectful exchange of arguments about whole genome sequencing (WGS) on fetal cells, considering the potential benefits and risks based on scientific evidence.
  • 35. This quiz is your chance to showcase your learning! Read each multiple-choice question thoroughly and take your time. Recall the important ideas and terms we discussed in class. Remember to answer honestly and independently – everyone learns at their own pace. Good luck!
  • 36. Psychoactive substances are chemicals that alter mood, perception, and behavior. They can be legal (caffeine, nicotine) or illegal (cocaine, heroin). These substances can have a significant impact on the human body, including the brain and nervous system. This assignment will explore the potential effects of psychoactive substances on human genes. 1. Choose a specific psychoactive substance (legal or illegal) and research its potential effects on the human genome. 2. Focus on current scientific studies exploring if and how this substance might cause mutations in genes. 3. Write a summary (2-3 paragraphs) of your findings, including: The chosen substance and its general effects. Specific details about the potential for mutations (types of mutations, affected genes, etc.) based on your research. Cite the sources you used (scientific articles, credible websites).
  • 37. D o y o u h a v e a n y q u e s t i o n s ?
  • 38. DNA acts as the master plan, storing the instructions for building proteins. RNA serves as the messenger, carrying this information from DNA to the protein-building machinery. Proteins, the workhorses of the cell, perform most cellular functions based on the instructions they receive.
  • 39. SUGAR Nucleotides are the basic units of DNA, composed of a phosphate group (P), a sugar (deoxyribose), and a nitrogenous base (A, C, G, or T) that encodes genetic information. P
  • 40. DNA is the molecule that forms genes, and multiple genes are grouped into chromosomes. Chromosomes are present in the nucleus of every cell and contain all the genetic information of an organism.
  • 41.
  • 42. Chromosome Chromosomes are structures formed by DNA and proteins that house multiple genes in the cell nucleus. Genes Genes are segments of DNA that contain instructions for protein synthesis and determine hereditary traits.
  • 43. 19th Century A scientist conducted experiments with peas that revealed patterns of inheritance. However, he did not know that these patterns were related to DNA. 20th Century In the 20th century, it was discovered that DNA is the molecule that carries genetic information. This revolutionized genetics and biology. At present DNA sequencing and genetic engineering enable a deep study of genes and their influence on inheritance.
  • 44. This is the biological process through which organisms transmit genetic traits, such as physical traits and behavior patterns, to their offspring by transferring genetic material, which may include DNA or RNA in the case of various organisms. This transmission of genetic information contributes to the continuity and diversity of species on Earth.
  • 45. Genetic transmission Inheritance involves the transmission of genetic information from parents to offspring, determining characteristics in the progeny. Diversity of traits Through inheritance, biological traits are perpetuated and diversified in all species on Earth. Continuity of species Inheritance is essential for the continuity and adaptation of species over generations.

Editor's Notes

  1. An example of a human chromosomal alteration is the mutation that causes Down Syndrome. It is a duplication mutation that leads to developmental delays and other abnormalities. It occurs when the individual inherits an extra copy of chromosome 21. It is also called trisomy ("three-chromosome") 21. Translocation also happens here, disrupts the regulation of genes, leading to uncontrolled cell growth
  2. An example of a human chromosomal alteration is the mutation that causes Down Syndrome. It is a duplication mutation that leads to developmental delays and other abnormalities. It occurs when the individual inherits an extra copy of chromosome 21. It is also called trisomy ("three-chromosome") 21.
  3. An example of a human chromosomal alteration is the mutation that causes Down Syndrome. It is a duplication mutation that leads to developmental delays and other abnormalities. It occurs when the individual inherits an extra copy of chromosome 21. It is also called trisomy ("three-chromosome") 21.
  4. An example of a human chromosomal alteration is the mutation that causes Down Syndrome. It is a duplication mutation that leads to developmental delays and other abnormalities. It occurs when the individual inherits an extra copy of chromosome 21. It is also called trisomy ("three-chromosome") 21. C. The protein is missing a few amino acids and may not function correctly.
  5. An example of a human chromosomal alteration is the mutation that causes Down Syndrome. It is a duplication mutation that leads to developmental delays and other abnormalities. It occurs when the individual inherits an extra copy of chromosome 21. It is also called trisomy ("three-chromosome") 21.