BIOLOGY

CONCEPTS & CONNECTIONS

Fourth Edition
Neil A. Campbell Jane B. Reece Lawrence G. Mitchell Martha R. Taylor

CHAPTER 8
The Cellular Basis of
Reproduction and Inheritance
Modules 8.19 8.23
From PowerPoint Lectures for Biology: Concepts & Connections
Copyright 2003 Pearson Education, Inc. publishing as Benjamin Cummings

ALTERATIONS OF CHROMOSOME NUMBER

AND STRUCTURE
8.19 A karyotype is a photographic inventory of an
individuals chromosomes
To study human chromosomes
microscopically, researchers stain and display
them as a karyotype
A karyotype usually shows 22 pairs of
autosomes and one pair of sex chromosomes

Copyright 2003 Pearson Education, Inc. publishing as Benjamin Cummings

 Preparation of a karyotype
Blood
culture

Packed red
And white
blood cells

Hypotonic solution

Stain
White
Blood
cells

Centrifuge

2
1

Fixative

Fluid

Centromere
Sister
chromatids
Pair of homologous
chromosomes

4
Copyright 2003 Pearson Education, Inc. publishing as Benjamin Cummings

Figure 8.19

8.20 Connection: An extra copy of chromosome 21

causes Down syndrome
This karyotype shows three number 21
chromosomes
An extra copy of chromosome 21 causes Down
syndrome

Figure 8.20A, B
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 The chance of having a Down syndrome child

goes up with maternal age

Figure 8.20C
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8.21 Accidents during meiosis can alter

chromosome number
Abnormal
chromosome count
is a result of
nondisjunction
Either
homologous
pairs fail to
separate
during
meiosis I

Nondisjunction
in meiosis I

Normal
meiosis II

Gametes
n+1

n+1

n1

n1

Number of chromosomes
Figure 8.21A

Copyright 2003 Pearson Education, Inc. publishing as Benjamin Cummings

 Or sister chromatids fail to separate during

meiosis II

Normal
meiosis I

Nondisjunction
in meiosis II

Gametes
n+1

n1

Number of chromosomes
Copyright 2003 Pearson Education, Inc. publishing as Benjamin Cummings

n
Figure 8.21B

 Fertilization after nondisjunction in the mother

results in a zygote with an extra chromosome

Egg
cell

n+1

Zygote
2n + 1

Sperm
cell
n (normal)

Figure 8.21C
Copyright 2003 Pearson Education, Inc. publishing as Benjamin Cummings

8.22 Connection: Abnormal numbers of sex

chromosomes do not usually affect survival
Nondisjunction can also produce gametes with
extra or missing sex chromosomes
Unusual numbers of sex chromosomes upset the
genetic balance less than an unusual number of
autosomes

Copyright 2003 Pearson Education, Inc. publishing as Benjamin Cummings

Table 8.22
Copyright 2003 Pearson Education, Inc. publishing as Benjamin Cummings

 A man with Klinefelter syndrome has an extra

X chromosome
Poor beard
growth
Breast
development

Underdeveloped
testes

Figure 8.22A
Copyright 2003 Pearson Education, Inc. publishing as Benjamin Cummings

 A woman with Turner syndrome lacks an X

chromosome
Characteristic
facial
features
Web of
skin
Constriction
of aorta
Poor
breast
development

Underdeveloped
ovaries

Figure 8.22B
Copyright 2003 Pearson Education, Inc. publishing as Benjamin Cummings

8.23 Connection: Alterations of chromosome

structure can cause birth defects and cancer
Chromosome breakage can lead to
rearrangements that can produce genetic
disorders or cancer
Four types of rearrangement are deletion,
duplication, inversion, and translocation

Copyright 2003 Pearson Education, Inc. publishing as Benjamin Cummings

Deletion

Duplication
Homologous
chromosomes
Inversion

Reciprocal
translocatio
n

Nonhomologous
chromosomes
Copyright 2003 Pearson Education, Inc. publishing as Benjamin Cummings

Figure 8.23A, B

 Chromosomal changes in a somatic cell can

cause cancer
A chromosomal translocation in the bone
marrow is associated with chronic myelogenous
leukemia
Chromosome 9

Chromosome 22

Reciprocal
translocation

Philadelphia chromosome
Activated cancer-causing gene
Copyright 2003 Pearson Education, Inc. publishing as Benjamin Cummings

Figure 8.23C