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1 In the human karyotype, the X chromosome is approximately

the same size as seven of the autosomes (the socalled
C group of chromosomes). What procedure could
be used to distinguish the X chromosome from the other
members of this group?
6.2 In humans, a cytologically abnormal chromosome 22,
called the Philadelphia chromosome because of the city
in which it was discovered, is associated with chronic
leukemia. This chromosome is missing part of its long
arm. How would you denote the karyotype of an individual

132 Chapter 6 Variation in Chromosome Number and Structure

who had 46 chromosomes in his somatic cells, including
one normal 22 and one Philadelphia chromosome?
6.3 During meiosis, why do some tetraploids behave more
regularly than triploids?
6.4 The following table presents chromosome data on four
species of plants and their F1 hybrids:
Meiosis I Metaphase
Root Tip
Species or F1 Chromosome Number of Number of
Hybrid Number Bivalents Univalents
A 20 10 0
B 20 10 0
C 10 5 0
D 10 5 0
A _ B 20 0 20
A _ C 15 5 5
A _ D 15 5 5
C _ D 10 0 10
(a) Deduce the chromosomal origin of species A.
(b) How many bivalents and univalents would you expect to observe
at meiotic metaphase I in a hybrid between species C
and species B?
(c) How many bivalents and univalents would you expect to
observe at meiotic metaphase I in a hybrid between species
D and species B?
6.5 A plant species A, which has seven chromosomes in its
gametes, was crossed with a related species B, which has
nine. The hybrids were sterile, and microscopic observation
of their pollen mother cells showed no chromosome
pairing. A section from one of the hybrids that grew vigorously
was propagated vegetatively, producing a plant with
32 chromosomes in its somatic cells. This plant was fertile.
6.6 A plant species X with n _ 5 was crossed with a related
species Y with n _ 7. The F1 hybrid produced only a few
pollen grains, which were used to fertilize the ovules of
species Y. A few plants were produced from this cross,
and all had 19 chromosomes. Following self-fertilization,
the F1 hybrids produced a few F2 plants, each with
24 chromosomes. These plants were phenotypically different
from either of the original species and were highly
fertile. Explain the sequence of events that produced
these fertile F2 hybrids.
6.7 Identify the sexual phenotypes of the following genotypes
in humans: XX, XY, XO, XXX, XXY, XYY
6.8 If nondisjunction of chromosome 21 occurs in the division
of a secondary oocyte in a human female, what is the
chance that a mature egg derived from this division will
receive two number 21 chromosomes?
6.9 A Drosophila female homozygous for a recessive X-linked
mutation causing yellow body was crossed to a wild-type
male. Among the progeny, one fl y had sectors of yellow
pigment in an otherwise gray body. These yellow sectors
were distinctly male, whereas the gray areas were female.
Explain the peculiar phenotype of this fl y.
6.10 The Drosophila fourth chromosome is so small that fl ies
monosomic or trisomic for it survive and are fertile. Several
genes, including eyeless (ey), have been located on this
chromosome. If a cytologically normal fl y homozygous for
a recessive eyeless mutation is crossed to a fl y monosomic
for a wild-type fourth chromosome, what kinds of progeny
will be produced, and in what proportions?
6.11 A woman with X-linked color blindness and Turner syndrome
had a color-blind father and a normal mother. In
which of her parents did nondisjunction of the sex chromosomes
6.12 In humans, Hunter syndrome is known to be an
X-linked trait with complete penetrance. In family A, two
phenotypically normal parents have produced a normal
son, a daughter with Hunter and Turner syndromes, and
a son with Hunter syndrome. In family B, two phenotypically
normal parents have produced two phenotypically
normal daughters and a son with Hunter and Klinefelter
syndromes. In family C, two phenotypically normal parents
have produced a phenotypically normal daughter, a
daughter with Hunter syndrome, and a son with Hunter
syndrome. For each family, explain the origin of the child
indicated in italics.
6.13 Although XYY men are phenotypically normal, would they
be expected to produce more children with sex chromosome
abnormalities than XY men? Explain.
6.14 In a Drosophila salivary chromosome, the bands have a
sequence of 1 2 3 4 5 6 7 8. The homologue with which this
chromosome is synapsed has a sequence of 1 2 3 6 5 4 7 8.
What kind of chromosome change has occurred? Draw the
synapsed chromosomes.
6.15 Other chromosomes have sequences as follows:
(a) 1 2 5 6 7 8; (b) 1 2 3 4 4 5 6 7 8; (c) 1 2 3 4 5 8 7 6. What
kind of chromosome change is present in each? Illustrate
how these chromosomes would pair with a chromosome
whose sequence is 1 2 3 4 5 6 7 8.
6.16 In plants translocation heterozygotes display about 50
percent pollen abortion. Why?
6.17 One chromosome in a plant has the sequence A B C D E F,
and another has the sequence M N O P Q R. A reciprocal
translocation between these chromosomes produced
the following arrangement: A B C P Q R on one chromosome
and M N O D E F on the other. Illustrate how these
translocated chromosomes would pair with their normal
counterparts in a heterozygous individual during meiosis.
6.18 In Drosophila, the genes bw and st are located on chromosomes
2 and 3, respectively. Flies homozygous for bw

Questions and Problems 133

mutations have brown eyes, fl ies homozygous for st mutations
have scarlet eyes, and fl ies homozygous for bw and
st mutations have white eyes. Doubly heterozygous males
were mated individually to homozygous bw; st females. All
but one of the matings produced four classes of progeny:
wild-type, and brown-, scarlet- and white-eyed. The single
exception produced only wild-type and white-eyed progeny.
Explain the nature of this exception.
6.19 A phenotypically normal boy has 45 chromosomes, but his
sister, who has Down syndrome, has 46. Suggest an explanation
for this paradox.
6.20 Distinguish between a compound chromosome and a
Robertsonian translocation.
6.21 A yellow-bodied Drosophila female with attached-X
chromosomes was crossed to a white-eyed male. Both of
the parental phenotypes are caused by X-linked recessive
mutations. Predict the phenotypes of the progeny.
6.22 A man has attached chromosomes 21. If his wife is cytologically
normal, what is the chance their fi rst child will
have Down syndrome?
6.23 Analysis of the polytene chromosomes of three populations
of Drosophila has revealed three different banding
sequences in a region of the second chromosome:
Population Banding Sequence
P1 1 2 3 4 5 6 7 8 9 10
P2 1 2 3 9 8 7 6 5 4 10
P3 1 2 3 9 8 5 6 7 4 10
Explain the evolutionary relationships among these populations.
6.24 Each of six populations of Drosophila in different geographic
regions had a specifi c arrangement of bands in one of the
large autosomes:
(a) 12345678
(b) 12263478
(c) 15432678
(d) 14322678
(e) 16223478
(f ) 154322678
Assume that arrangement (a) is the original one. In what
order did the other arrangements most likely arise, and
what type of chromosomal aberration is responsible for
each change?
6.25 The following diagram shows two pairs of chromosomes
in the karyotypes of a man, a woman, and their child. The
man and the woman are phenotypically normal, but the
child (a boy) suffers from a syndrome of abnormalities, including
poor motor control and severe mental impairment.
What is the genetic basis of the childs abnormal phenotype?
Is the child hyperploid or hypoploid for a segment in
one of his chromosomes?
Mother Father Child
6.26 A male mouse that is heterozygous for a reciprocal
translocation between the X chromosome and an autosome
is crossed to a female mouse with a normal karyotype.
The autosome involved in the translocation carries a
gene responsible for coloration of the fur. The allele on the
males translocated autosome is wild-type, and the allele on
its nontranslocated autosome is mutant; however, because
the wild-type allele is dominant to the mutant allele, the
males fur is wild-type (dark in color). The female mouse
has light color in her fur because she is homozygous for
the mutant allele of the color-determining gene. When the
offspring of the cross are examined, all the males have light
fur and all the females have patches of light and dark fur.
Explain these peculiar results.
6.27 In Drosophila, the autosomal genes cinnabar (cn) and brown
(bw) control the production of brown and red eye pigments,
respectively. Flies homozygous for cinnabar mutations have
bright red eyes, fl ies homozygous for brown mutations have
brown eyes, and fl ies homozygous for mutations in both
of these genes have white eyes. A male homozygous for
mutations in the cn and bw genes has bright red eyes because
a small duplication that carries the wild-type allele
of bw (bw_) is attached to the Y chromosome. If this male
is mated to a karyotypically normal female that is homozygous
for the cn and bw mutations, what types of progeny
will be produced?
6.28 In Drosophila, vestigial wing (vg), hairy body (h), and eyeless
(ey) are recessive mutations on chromosomes 2, 3, and
4, respectively. Wild-type males that had been irradiated
with X rays were crossed to triply homozygous recessive
females. The F1 males (all phenotypically wild-type) were
then testcrossed to triply homozygous recessive females.
Most of the F1 males produced eight classes of progeny
in approximately equal proportions, as would be expected
if the vg, h, and ey genes assort independently. However,
one F1 male produced only four classes of offspring, each
approximately one-fourth of the total: (1) wild-type,
(2) eyeless, (3) vestigial, hairy, and (4) vestigial, hairy,
eyeless. What kind of chromosome aberration did the
exceptional F1 male carry, and which chromosomes were
6.29 Cytological examination of the sex chromosomes in a man
has revealed that he carries an insertional translocation.
A small segment has been deleted from the Y chromosome
and inserted into the short arm of the X chromosome; this
segment contains the gene responsible for male differentiation
(SRY). If this man marries a karyotypically normal
woman, what types of progeny will the couple produce?

130 Chapter 6 Variation in Chromosome Number and Structure

Illustrate Basic Genetic Analysis

Basic Exercises
1. A species has two pairs of chromosomes, one long and
the other short. Draw the chromosomes at metaphase of
mitosis. Show each chromatid. Are homologous chromosomes
Answer: Mitotic metaphase in this species would look something
like the accompanying picture. Because each chromosome
is duplicated, it consists of two sister chromatids.
However, because the picture shows mitosis rather than
meiosis, homologous chromosomes are not paired.
2. Plant species A shows 10 bivalents of chromosomes at
metaphase of meiosis I; plant species B shows 14 bivalents
at this stage. The two species are crossed, and the chromosomes
in the offspring are doubled. (a) How many bivalents
will be seen at metaphase of meiosis I in the offspring?
(b) Is the offspring expected to be fertile or sterile?
Answer: (a) The offspring is a composite of the chromosomes
of the two parents. In species A, the basic chromosome
number is 10; in species B, it is 14. The basic chromosome
number in the offspring is therefore 10 _ 14 _ 24,
and with the chromosomes having been doubled, this is
the number of bivalents that should be seen at metaphase
of meiosis I. (b) The offspring is an allotetraploid and
should therefore be fertile.
3. What are the karyotypes of (a) a female with Down syndrome,
(b) a male with trisomy 13, (c) a female with Turner
syndrome, (d) a male with Klinefelter syndrome, (e) a male
with a deletion in the short arm of chromosome 11?
Answer: (a) 47, XX, _21, (b) 47, XY, _13, (c) 45, X,
(d) 47, XXY, (e) 46, XY del(11p).
4. What kind of pairing confi guration would be seen in
prophase of meiosis I in (a) an inversion heterozygote,
(b) a translocation heterozygote?
Answer: (a) Loop confi guration, (b) cross confi guration.

Testing Your Knowledge

Integrate Different Concepts and Techniques
1. A Drosophila geneticist has obtained females that carry
attached-X chromosomes homozygous for a recessive
mutation ( y) that causes the body to be yellow instead of
gray. In one experiment, she crosses some of these females
to ordinary wild-type males, and in another, she crosses
these females to wild-type males that have their X and Y
chromosomes attached to each other; that is, they carry a
compound XY chromosome. Predict the phenotypes of the
progeny from these two crosses and indicate which, if any,
will be sterile.
Answer: To predict the phenotypes of the progeny, we need to
know their genotypes. The easiest way to determine these
genotypes is to diagram the kinds of zygotes produced by
each cross.
First, we consider the cross between the yellowbodied
attached-X females and the ordinary wild-type
males. The females produce two kinds of gametes, XX
and nullo. The males also produce two kinds of gametes,
X and Y. When these are combined in all possible
ways, four types of zygotes are produced; however, only
two types are viable. The XXY zygotes will develop into
yellow-bodied femaleslike their mothers except that
they carry a Y chromosomeand the XO zygotes will
develop into gray-bodied maleslike their fathers except
that they lack a Y chromosome. The extra Y chromosome
in the females will have no effect on fertility,
but the missing Y chromosome in the males will cause
them to be sterile.
XyXy X+
gray males
XyXy Y
yellow females
Now we consider the cross between the yellow-bodied
attached-X females and the males with a compound XY
chromosome. Both sexes produce two kinds of gametes
for the females, the same as above, and for the males, either
XY or nullo. When these are united in all possible ways, we
fi nd that two types of zygotes will be viable: yellow-bodied
females with attached-X chromosomes and gray-bodied
males with a compound XY chromosome. Both types of
these viable progeny will be fertile.