Download Chromosomal Abnormality Notes (11.3)

Chromosomal Abnormalities (11.3)
State Standard
2C. Using Mendel’s laws, explain the role of
meiosis in reproductive variability.
2D. Describe the relationships between changes
in DNA and potential appearance of new traits
Chapter 11
Complex Inheritance and Human Heredity
11.3 Chromosomes and Human Heredity
Karyotype Studies
 Karyotype—micrograph in which the pairs
of homologous chromosomes are arranged in
decreasing size.
 Images of chromosomes stained during
metaphase
 Chromosomes are arranged in decreasing
size to produce a micrograph.
 Used to identify chromosome abnormalities
Normal Karyotype
Chapter 11
Complex Inheritance and Human Heredity
11.3 Chromosomes and Human Heredity
Nondisjunction
 Cell division during which sister chromatids
fail to separate properly
Nondisjunction on autosomes (non-sex
chromosomes – 1-22) can cause:
 Down Syndrome (Trisomy 21)
 Patau Syndrome (Trisomy 13)
 Edwards Syndrome (Trisomy 18)
Chapter 11
Complex Inheritance and Human Heredity
11.3 Chromosomes and Human Heredity
Nondisjunction Cont’d
 Nondisjunction on sex chromosomes can
cause…
 Turner Syndrome (female w/ only 1 X
chromosome
 Klinefelter’s Syndrome (male w/ an extra X
chromosome
Nondisjunction
Chapter 11
Complex Inheritance and Human Heredity
Chapter 11
Complex Inheritance and Human Heredity
Chapter Diagnostic
Questions
Identify the disease characterized by the
absence of melanin.
A. albinism
B. cystic fibrosis
C. galactosemia
D. Tay-Sachs
0%
A
1.
2.
3.
4.
A
B
C
D
0%
0%
B
C
0%
D
Chapter 11
Complex Inheritance and Human Heredity
Chapter Diagnostic
Questions
An individual with Tay-Sachs disease would be
identified by which symptom?
A. excessive mucus
production
B. an enlarged liver
C. a cherry-red spot on
the back of the eye
D. vision problems
0%
A
1.
2.
3.
4.
A
B
C
D
0%
0%
B
C
0%
D
Chapter 11
Complex Inheritance and Human Heredity
Chapter Diagnostic
Questions
Under what circumstances will a recessive trait
be expressed?
A. A recessive allele is
passed on by both parents.
B. One parent passes on the
recessive allele.
C. The individual is
heterozygous for the trait.
D. There is a mutation in the
dominant gene.
0%
A
1.
2.
3.
4.
A
B
C
D
0%
0%
B
C
0%
D
Chapter 11
Complex Inheritance and Human Heredity
11.1 Formative
Questions
Which is the genotype of a person who is
a carrier for a recessive genetic disorder?
A. DD
B. Dd
C. dd
D. dE
0%
A
1.
2.
3.
4.
A
B
C
D
0%
0%
B
C
0%
D
Chapter 11
Complex Inheritance and Human Heredity
11.1 Formative
Questions
Albinism is a recessive condition. If an albino
squirrel is born to parents that both have normal fur
color, what can you conclude about the genotype of
the parents?
0%
0%
0%
D
A
B
C
D
C
1.
2.
3.
4.
B
0%
A
A. at least one parent is
a carrier
B. both parents are carriers
C. both parents are
homozygous recessive
D. at least one parent is
homozygous dominant
Chapter 11
Complex Inheritance and Human Heredity
11.2 Formative
Questions
When a homozygous male animal with black fur
is crossed with a homozygous female with white
fur, they have offspring with gray fur. What type
of inheritance does this represent?
0%
B
A
0%
A
B
C
D
0%
0%
D
1.
2.
3.
4.
C
A. dosage compensation
B. incomplete dominance
C. multiple alleles
D. sex-linked
Chapter 11
Complex Inheritance and Human Heredity
11.2 Formative
Questions
Of the 23 pairs of chromosomes in human
cells, one pair is the _______.
0%
B
A
0%
A
B
C
D
0%
0%
D
1.
2.
3.
4.
C
A. autosomes
B. Barr bodies
C. monosomes
D. sex chromosomes
Chapter 11
Complex Inheritance and Human Heredity
11.3 Formative
Questions
What does a karyotype show?
A. The blood type of an
individual.
D. The phenotype of
individuals in a pedigree.
A
0%
0%
B
C. The cell’s chromosomes
arranged in order.
A
B
C
D
0%
0%
D
1.
2.
3.
4.
C
B. The locations of genes
on a chromosome.
Chapter 11
Complex Inheritance and Human Heredity
11.3 Formative
Questions
What is occurring in
this diagram?
0%
0%
D
0%
B
0%
A
B
C
D
C
1.
2.
3.
4.
A
A. multiple alleles
B. nondisjunction
C. nonsynapsis
D. trisomy
Chapter 11
Complex Inheritance and Human Heredity
11.3 Formative
Questions
What condition occurs when a person’s cells
have an extra copy of chromosome 21?
0%
0%
0%
D
A
B
C
D
C
A
0%
1.
2.
3.
4.
B
A. Down syndrome
B. Klinefelter’s syndrome
C. Tay-Sachs syndrome
D. Turner’s syndrome
Chapter 11
Complex Inheritance and Human Heredity
Chapter Assessment
Questions
Use the figure to describe what
the top horizontal line between
numbers 1 and 2 indicates.
0%
B
0%
A
B
C
D
0%
0%
D
1.
2.
3.
4.
C
1 and 2 are siblings
1 and 2 are parents
1 and 2 are offspring
1 and 2 are carriers
A
A.
B.
C.
D.
Chapter 11
Complex Inheritance and Human Heredity
Chapter Assessment
Questions
Which is not an allele
in the ABO blood group?
A. IA
B. IO
C. IB
D. i
1.
2.
3.
4.
0%
D
0%
C
0%
B
A
0%
A
B
C
D
Chapter 11
Complex Inheritance and Human Heredity
Chapter Assessment
Questions
Down Syndrome results from what
change in chromosomes?
0%
0%
0%
D
A
B
C
D
C
A
0%
1.
2.
3.
4.
B
A. one less chromosome
on pair 12
B. one extra chromosome
on pair 21
C. one less chromosome
on pair 21
D. one extra chromosome
on pair 12
Chapter 11
Complex Inheritance and Human Heredity
Standardized Test
Practice
If a genetic disorder is caused by a dominant
allele, what is the genotype of those who do
not have the disorder?
1.
2.
3.
0%
B
A
0%
A
B
C
0%
C
A. heterozygous
B. homozygous dominant
C. homozygous recessive
Chapter 11
Complex Inheritance and Human Heredity
Standardized Test
Practice
Analyze this pedigree showing
the inheritance of a dominant
genetic disorder. Which would
be the genotype of the first
generation father?
0%
0%
A
A. RR
B. Rr
C. rr
0%
C
A
B
C
B
1.
2.
3.
Chapter 11
Complex Inheritance and Human Heredity
Standardized Test
Practice
Shorthorn cattle have an allele for both red and
white hair. When a red-haired cow is crossed with a
white-haired bull, their calf has both red and white hairs
scattered over its body. What type of inheritance does
this represent?
0%
0%
D
0%
C
0%
A
B
C
D
B
codominance
dosage compensation
epistasis
sex-linked
A
A.
B.
C.
D.
1.
2.
3.
4.
Chapter 11
Complex Inheritance and Human Heredity
Standardized Test
Practice
Why are males affected by recessive
sex-linked traits more often than are females?
0%
0%
0%
D
A
B
C
D
C
A
0%
1.
2.
3.
4.
B
A. Males have only
one X chromosome.
B. Males have two
X chromosomes.
C. Males have only
one Y chromosome.
D. The traits are located
on the Y chromosomes.
Chapter 11
Complex Inheritance and Human Heredity
Standardized Test
Practice
A carrier of hemophilia and her husband, who is
unaffected by the condition, are expecting a son.
What is the probability that their son will have
hemophilia?
0%
0%
D
0%
B
A
0%
A
B
C
D
C
1.
2.
3.
4.
A. 25%
B. 50%
C. 75%
D. 100%