Chapter 11

HUMAN GENETICS
 CHAPTER OVERVIEW
Vocabulary of
genetics

Basic concepts of
heredity

Genetic tools

Testcross
Mendelian Inheritance
Probability

Punnett square
First Law Second Law
 CHAPTER OVERVIEW
Sources of Dominant –recessive Multiple allele
genetic variation inheritance inheritance
Incomplete dominance Polygene inheritance

Types of inheritance Codominance Sex-linked inheritance

Pedigree analysis
Duplication
Inversion
Changes in
chromosomes structure Translocation
Deletion
 LESSON OUTCOMES
At the end of this chapter, students should be able to:
i) Define terminologies in genetics
ii) Describe and explain concepts in genetics
iii) Describe and explain Mendelian inheritance
iv) Describe and explain types of inheritance
v) Apply the genetic tools to predict the inheritance of
the traits.
vi) Describe abnormalities in chromosome number
and alteration in chromosome structure.
Dominant? SELF-CHECK

3:1?

Heterozygous?
 HEREDITY
 Growth and development of a new individual is guided by
the gene-bearing chromosomes receives from its parents in
egg and sperm.
 Individual genes, or DNA segments contain “recipes” or
genetic blueprints for protein → synthesis body’s molecule.
 Genes ultimately expressed in your hair color, sex, blood
type, etc.
BASIC CONCEPTS OF HEREDITY

VOCABULARY OF GENETICS
 Basic Concepts of Heredity (1)
VOCABULARY OF GENETICS
 Genetic = science of genes, heredity, and variation in living organisms.
 Genome = all DNA in a haploid number of chromosomes of a species
 Basic Concepts of Heredity (1)
VOCABULARY OF GENETICS
Chromosome : doubled stranded DNA
molecules that carries genetic
information.

Gene : is a stretch of DNA or RNA that

determines a certain trait. (unit of Allele : two matched genes, which
information about heritable traits) are at same locus (location), on
homologous chromosomes.
 GENE vs ALLELE
Gene Allele
A section of DNA that
Refers to A specific variation of a gene.
controls a certain trait.

Eye color, blood type, Blue eyes, green eyes. (Eye color)
Examples A B O
skin color. I I I (Blood type)
 Recombinant = a new combination alleles in a DNA
molecules compared to parental genotype
a A pair of homologous
chromosomes, each in the
unduplicated state (most often, one
from a male parent and its partner
from a female parent)

b A gene locus (plural, loci), the

location for a specific gene on a
specific type of chromosome
c A pair of alleles (each being
one chemical form of a gene)
at corresponding loci on a
pair of homologous
chromosomes
d Three pairs of genes (at three
loci on this pair of homologous
chromosomes); same thing as
three pairs of alleles
BASIC CONCEPTS OF HEREDITY

GENOTYPE VS PHENOTYPE
 Basic Concepts of Heredity (3)
 Genotype
 Inheritedalleles
 Genetic constitution of an individual, a single gene pair

 Phenotype
 Observable functional or physical traits
 Homozygous condition: identical alleles (BB) (bb)
 Heterozygous condition: different alleles (Bb)
 Genotype VS Phenotype

 Seed shape of a pea:

Genotype and Phenotype
BASIC CONCEPTS OF HEREDITY

DOMINANT VS RECESSIVE
HOMOZYGOUS VS HETEROZYGOUS
 Basic Concepts of Heredity (2)
 Dominant allele
 Dominat allele masks the expression of the other in
influencing some trait.
 Effect masks recessive allele paired with it

 Recessive = allele that causes a phenotype that is only seen

in a homozygous genotype
 Genetic representations
 Homozygous dominant (AA)
 Homozygous recessive (aa)
 Heterozygous (Aa)

If two alleles at a locus differ, the dominant allele determines the

organism’s appearance, while the recessive allele, has no noticeable
effect on the organism’s appearance.
Many Genetic Traits Have Dominant and
Recessive Forms
Dominant VS Recessive gene
 Eyes of brown, blue, hazel, green, gray..
GENETIC Hair of black, brown, blond, red..
Heritable variation.
VARIATION What are the genetic principle that account for the
transmission of such traits from parents to offspring?
 Genetic variations

How Genes for Different Traits Are

Sorted into Gametes?

BIO310 / Genetics / NHM

 Sexual sources of genetic variations

1. Independent assortment of chromosome

 Because the alignment of tetrads on the meiosis I metaphase
spindle is largely determined by chance, the maternal and
paternal chromosomes are randomly distributed to daughter
nuclei. One of two possible Other possible
alignments alignment

Initial
chromosome
alignments
(at metaphase I):

 This simple event leads to astonish

variation in gametes.
 Independent Assortment:
Chromosomes Moved at Random into Forming Gametes
One of two possible Other possible
alignments alignment

a. Initial chromo-
some alignments
(at metaphase I):

b. The
resulting
alignments at
metaphase II:

c Possible
combinations
of alleles in
gametes:
AB ab Ab aB

Fig. 19-8, p. 380

Crosses between individuals
heterozygous for two traits

CcDd CcDd
meiosis, meiosis,
gamete formation gamete formation

1/4 1/4 1/4 1/4

CD Cd cD cd
1/4 1/16 1/16 1/16 1/16
CD CCDD CCDd CcDD CcDd

1/4 1/16 1/16 1/16 1/16

Dominant : Chin fissure Cd CCDd CCdd CcDd Ccdd

: Dimples 1/4 1/16 1/16 1/16 1/16

Recessive : Smooth chin cD CcDD CcDd ccDD ccDd

: No dimples 1/4 1/16 1/16 1/16 1/16

cd CcDd Ccdd ccDd ccdd
 Crosses between individuals
heterozygous for two traits Adding up the combinations possible:
yields sixteen different 9/16 or 9 chin fissure, dimples
gamete unions 3/16 or 3 chin fissure, no dimples
3/16 or 3 smooth chin, dimples
Fig. 19-9, p. 381
1/16 or 1 smooth chin, no dimples
 Sexual sources of genetic variations

2. Crossover of homologues
 Gamete variation results from the crossing over
and exchange of chromosomal parts during
meiosis I.
 During meiosis, chromosome can break and
precisely exchange gene segments with their
homologous counterparts → recombinant
chromosomes.
 When chromatids segregate, each gamete will
receive a unique combination of parental
genes. In general all four of the tetrad may take
part in crossing over.
 Sexual sources of genetic variations

3. Random fertilization of eggs by sperm

 Gametes produced with all variations possible and single
human egg will be fertilized with a sperm in a random basis.
GENETICS TOOLS
 Genetic Tools: Testcrosses and Probability

 When potential parents are concerned about passing a

harmful trait to a child, genetic counselors must try to
predict the likely outcome of the mating.

TESTCROSS
PUNNETT SQUARE
 A Testcross Also Can Reveal Genotypes

 Testcross
 Cross between an organism whose genotype is unknown
with an organism that is homozygous recessive → so the
unknown genotype can be determined from that of the
offspring
 Cross organism with homozygous
recessive organism (pp)
▪ If all offspring are Pp, parent
was probably PP
▪ If some of the offspring have
the dominant trait and some
have the recessive trait, parent
was Pp
 Probability
 Measure of the chance that some particular
outcome will occur.
 Factor in the inheritance of single-gene traits.
 Cross BB x bb → ?
 All of the offspring will be heterozygous, Bb

 Cross Bb x Bb
¼ BB, ½ Bb, and ¼ bb
Use Multiplication to Figure the Probability of the
Inheritance of Alleles
 A Punnett Square Can Be Used to Predict the
Result of a Genetic Cross

 Punnett square
 Grid used to determine possible outcomes of genetic
crosses
 Possibility can be expressed mathematically (0%, 100%)
 Most probable outcome does not have to occur

 Cross Bb x Bb

Diagrammatic device for predicting allele

composition of offspring from a cross
between individual known genotype.
 Making a Punnett Square Is One Way to
Determine Likely Outcome of Genetic Cross
 BIO310 / Genetics / NHM

MENDELIAN
INHERITANCE
 Fathers of modern genetics

 Gregor Mendel (1822 – 1884)

 First proposed basic principles of heredity.
 Made revolutionary discoveries about

inheritance patterns in pea plants.

 MENDELIAN INHERITANCE
 Gene transmission = pass traits
from parents to offspring
 Genes are located on chromosomes
(locus/loci) and consist of DNA.
 Passed from parents to their
offspring through reproduction.
 Each Pair of Gene Alleles Is Separated and Two
Alleles End Up in Different Gametes

 We inherit pairs of a genes

(alleles) on pairs of
chromosomes, but a gamete
receives only one gene from
each pair.
 One of these principles is now
called Mendel's law of
segregation.
 Segregation
 Pairs of alleles separated
during gamete formation
 Mendel's law of segregation
 Mendel worked with pea plants and selected seven traits to
study that each occurred in two different forms.
 One of the traits he studied was pod color.
 Some pea plants have green pods → dominant.
 Others have yellow pods → recessive.

Pod

Seed
 Mendel's law of segregation
 Since pea plants are capable of self fertilization, Mendel was
able to produce true-breeding plants.
 A true-breeding yellow-pod plant for example would only
produce yellow-pod offspring.

Recall:
Flower morphology
 Mendel's law of segregation
 Mendel then began to experiment to find out what
would happen if he cross-pollinated a true-breeding
yellow pod plant with a true-breeding green pod plant.

 He referred to the two parental plants as the parental

generation (P generation) and the resulting offspring
were called the first filial or F1 generation.
Resulting offspring??
 Mendel's law of segregation

 Cross-pollination between a true-breeding yellow

pod plant and a true-breeding green pod plant,
Mendel noticed all of the resulting offspring, F1
generation, were all green.
 Mendel's law of segregation
 He then allowed all of the green F1 plants to self-
pollinate.
 He referred to these offspring as the F2 generation.

 3/4 had green pods

 1/4 had yellow pods.

 Mendel noticed a 3:1

ratio in pod color.
Why ?

BIO310 / Genetics / NHM

 Mendel's law of segregation

 This law states that allele pairs separate or segregate

during gamete formation, and randomly unite at
fertilization.
 There are four main concepts involved in this idea.
1. There are alternative forms for genes.
 This means that a gene can exist in more than one
form.
 For example, the gene that determines pod color can
either be (G) for green pod color or (g) for yellow pod
color.
 Mendel's law of segregation
2. For each characteristic or trait organisms inherit two
alternative forms of that gene, one from each parent. These
alternative forms of a gene are called alleles.
 The F1 plants in Mendel's experiment each received one
allele from the green pod parent plant and one allele from
the yellow pod parent plant.
 True-breeding = green pod plants (GG) alleles, true-
breeding yellow pod plants = (gg) alleles
 and the resulting F1 plants have (Gg) alleles.
 Mendel's law of segregation
3. When gametes (sex cells) are produced, allele pairs separate
or segregate leaving them with a single allele for each trait.
 sex cells contain only half the compliment of genes.

 When gametes join during fertilization the resulting

offspring contain two sets of alleles, one allele from each
parent.
 For example, the sex cell for the green pod plant had a
single (G) allele and the sex cell for the yellow pod plant
had a single (g) allele.
 After fertilization the resulting F1 plants had two alleles
(Gg).
 Mendel's law of segregation
4. When the two alleles of a pair are different, one is dominant
and the other is recessive.
 one trait is expressed or shown, while the other is hidden.

 For example, the F1 plants (Gg) were all green because the
allele for green pod color (G) was dominant over the allele
for yellow pod color (g).
 When the F1 plants were allowed to self-pollinate, 1/4 of
the F2 generation plant pods were yellow.
 This trait had been masked because it is recessive. The
alleles for green pod color are (GG) and (Gg). The alleles
for yellow pod color are (gg).
Mendel's law of segregation

BIO310 / Genetics / NHM

 Concept check

Dominant : Yellow
Recessive : Green

F1 generation??

F2 generation??
 Law of segregation
Stating that during the production of gametes the two copies
of each hereditary factor segregate so that offspring
acquire one factor from each parent.
 Genotype and Phenotype
 If a pair of alleles for a trait is the same they are called
homozygous.
 If they are different they are called heterozygous.
 In the first example
 the F1 plants were all heterozygous for the pod color
trait.
 Their genetic makeup or genotype was (Gg). Their
phenotype or expressed physical trait was green pod
color.
Genotype = Gg Monohybrid
Phenotype = Green (One trait)
Mendel's Law of Independent Assortment

 Mendel performed dihybrid crosses (mating of parent

plants that differ in two traits) in plants that were true-
breeding for two traits. (GGYY x ggyy)
 For example, a plant that had- GGYY (green pod color and
yellow seed color) was cross-pollinated with a plant that
had- ggyy (yellow pod color and green seeds).

Dihybrid
(Two traits)
GGYY X ggyy • Pod color
• Seed color
 Mendel's Law of Independent Assortment

 In this cross, the traits for green pod color (GG) and
yellow seed color (YY) are dominant. Yellow pod color
(gg) and green seed color (yy) are recessive.

Dominant : Green pod

: Yellow seed
Recessive : Yellow pod
: Green seed

GGYY X ggyy

 F1 Generation? F1 generation = All green

 Mendel's Law of Independent Assortment

 Mendel then allowed all of the F1 plants to self-

pollinate.
 He referred to these offspring as the F2 generation.

F2 generation??
Self pollinate
F1 plant
 Mendel's Law of Independent Assortment

 He noticed:
 9 of the F2 plants had
green pods and yellow
seeds,
 3 had green pods and
green seeds,
 3 had yellow pods and
yellow seeds and
 1 had a yellow pod and
green seeds.
9:3:3:1 ratio.
Mendel's Law of Independent Assortment

 Mendel performed similar experiments

focusing on several other traits like seed color
and seed shape, pod color and pod shape,
and flower position and stem length.
 Noticed the same ratios in each case.

 Mendel's law of independent assortment.

 Law of independent assortment
states that allele pairs separate independently during
the formation of gametes. Therefore, traits are
transmitted to offspring independently of one another.
Dominant? SELF-CHECK
3:1?

Heterozygous?

10% 30% 50% 70% 80% 90%

 TYPE OF
INHERITANCE
 Types of inheritance
 Rules that explain the common patterns with
the inherited characteristic follow as they are
passed through families.
 Why?

 Disorder occurs by inheritance.

 By knowing this, it is possible to calculate the

probability that a particular couple will have a
child who inherits a particular condition.
 Autosomal
 Inheriting a disease, condition, or trait chromosomes
depends on the type of chromosome
affected
 autosomal or sex chromosome.
 It also depends on whether the trait is
dominant or recessive.
 A single, abnormal gene on one of the
first 22 nonsex chromosomes from
either parent can cause an autosomal
disorder.
 Abnormal gene on sex chromosomes
Sex chromosome
can cause sex-linked disorder.
 CHAPTER OVERVIEW

Dominant –recessive Multiple allele

inheritance inheritance
Types of inheritance
Polygene
Incomplete dominance
inheritance

Sex-linked
Codominance
inheritance
 Types of inheritance
1. Dominant – recessive inheritance
 Interaction of dominant and
recessive alleles.
 Used “Punnet square” to figure
out for a single trait, possible
combination that would result
from the mating of parents.
 Punnet square only predicts the
probability of having certain
percentage of offspring with
particular genotype of
phenotype.
 AUTOSOMAL DOMINANT
 A pattern of inheritance in which an affected individual has
one copy of a mutant gene and one normal gene on a pair of
autosomal chromosomes.
 Dominant inheritance means an abnormal gene from one
parent is capable of causing disease, even though the
matching gene from the other parent is normal.
 Eg: Huntington’s Disease
Degenerative disease of the nervous system
 AUTOSOMAL DOMINANT
 The abnormal gene "dominates" the pair of genes.
 If one parent carry dominant gene, what is the chance of
children to inherit the disorder?

 If just one parent has a

dominant gene defect,
each child has a 50%
chance of inheriting
the disorder.
 Autosomal dominant

A. Here the phenotype for the dominant B. College basketball stars Haris C. These mens have
allele (red) is expressed in the carriers. Charalambous, who died when his aorta
burst during warmup exercises. He was achondroplasia.
very tall and lanky, with long arms and (autosomal dominant)
legs,traits there associated with Marfan
syndrome. (autosomal dominant)
 AUTOSOMAL RECESSIVE
 An autosomal recessive disorder means two copies of an
abnormal gene must be present in order for the disease or
trait to develop.

CHANCES OF INHERITING A TRAIT:

 If a child are born to parents who both carry an autosomal

recessive change (mutation)

 He have a 25% chance of getting the malfunctioning genes
from both parents → affected.
 He will have a 50% (1 in 2) chance of inheriting one
abnormal gene → carrier
 AUTOSOMAL RECESSIVE
 If four children are born to a couple who both carry
the gene (but do not have signs of disease), the
statistical expectation is as follows:
 One child is born with two normal genes (normal).
 Two children are born with one
normal and one abnormal gene
(carriers, without disease).
 One child is born with two
abnormal genes (at risk for the disease).
 AUTOSOMAL RECESSIVE

Example of autosomal recessive diseases:

1. Albinism:
• reduced or lack of pigment that
normally gives color to the skin, hair,
and eyes.
2. Thalassemia:
• forms of inherited autosomal
recessive blood disorders.
• abnormal formation of haemoglobin,
results in improper oxygen transport
and destruction of red blood cells
Autosomal recessive
 Exercise
Mating between carrier
father with non carrier
mother (normal) :
• What is the chances
for the child to
become normal?
• Carrier?
 Mendelian Disorders in human

Autosomal dominant (aa x Aa) Autosomal recessive (Aa x Aa)

Criteria:
Criteria:
1. Appear in each generation, even in
1. Both parents are heterozygous,
heterozygous.
50% child will be carrier and 25%
2. If one parent heterozygous
will be affected
(affected) and the other is
2. If both parents are homozygous
homozygous (normal) → 50% any
recessive, all child will be affected.
child will be affected.

Achondroplasia Cystic fibrosis

Familial hypercholesterolemia Phenylketonuria
Lactose intolerance Tay-Sachs disease
Marfan syndrome Sickle cell disease
 Types of inheritance
2. Incomplete dominance
 In complete dominance one allele is expressed, while
the other isn’t.
 The heterozygous phenotype is intermediate between
that of either homozygous.
 Types of inheritance
2. Incomplete dominance
 Example:
◼ Red-flowered plant of genotype RR crossed with
white-flowered plant of genotype rr can give rise to
a Rr plant – which has pink flowers.
◼ This intermediate color presumably due to
intermediate amount of pigment.

RED x WHITE → PINK

 Types of inheritance
2. Incomplete dominance
Example:
 Human hair texture is
another example of
incomplete dominance
Genotypes
◼ S’S’ = Straight
◼ SS = Curly
◼ S’S = Wavy
 Types of inheritance
3. Codominance
 A condition in which both alleles of a gene
pair in a heterozygote are fully expressed,
with neither one being dominant or
recessive to the other.
 Human ABO blood group is an excellent
example of codominant alleles.
 Types of inheritance
4. Multiple allele inheritance
 series of three or more allelic forms of a gene

 Example: Inheritance of human ABO blood group;

◼ ABO blood group are controlled by three alleles:

IA, IB, IO
◼ The alleles determine the type of polysaccharide on the
cell surface membrane of erythrocytes that functions as
antigens.
 Phenotypes
Genotypes
Antigen on surface ABO blood type
IA IA A
Type A
IA i A
IB IB B
Type B
IB i B
IA IB AB Type AB
ii None Type O
 Could a man with blood type AB be a father
of a child with blood type O?
 Could a woman with blood type O be a
mother of a child with blood type AB?
 Could a type B child with a type A mother

have a type A father or type O father?

 Types of inheritance
5. Polygene inheritance
 Occurs when one characteristic is controlled by two or more than two genes
(usually by many different genes) at different loci on different chromosomes.
 Each dominant allele has a small quantitative effect individually on the
phenotype.
 Eg: based on the assumption that skin color is controlled by two pairs of alleles:
◼ A, B are dominant allele – darker skin tone
◼ a, b are recessive allele – paler skin tone
◼ AABB (very dark skin) X aabb (very fair skin) = producing AB and ab
gametes. As a result all of their offspring will be AaBb (medium brown skin).
 SEX-LINKED INHERITANCE
6. Sex-linked inheritance
 Sex-linked genes located on the sex chromosome but are not
involved in the determination of sex.
 In human, most of the sex-linked genes are carried on the X
chromosome.
 Most X-linked traits are recessive.

 Therefore, male only requires one allele to be affected, while

female require two alleles.
 X-linked trait passes from MOTHER → SON, but never from
the father.
 Eg: Hemophilia, color blindness
 SEX-LINKED INHERITANCE
 Hemophilia
◼ X-linked recessive disorder
◼ Recessive trait, found on the X chromosome
◼ Individual have the inability to produce a protein
needed for blood clotting.
◼ Caused by a mutated recessive gene found on the
X-chromosome.
◼ It is characterized by reduced ability of the blood
to clot due to lack of clotting factors.
EXERCISE:

A man with hemophilia married a

normal noncarrier woman.

• What is the probability that the

couple will have carrier child?

• What is the probability that the

couple will have normal child?
 Hemophilia
 When the mother
carries the hemophilia
gene and the father is
unaffected, calculate
the possibility for the
gene to be
transmitted to the
children.
 SEX-LINKED INHERITANCE
Red-green Color blindness
◼ Individual have difficult time distinguishing between shades of
red and green.
◼ May caused by an abnormality in any of light receptor (cone).
◼ X-linked recessive disorder.

▪ Cause: fault in the

development of one or
more sets of retinal cones
that perceive color in light
 SEX-LINKED INHERITANCE
Red-green Color blindness
◼ Colorblindness is a recessive trait found on the X
chromosome.
◼ Female, normal vision: XBXB
◼ Female, carrier: XBXb
◼ Female, color blind: XbXb
◼ Male, normal vision: XBY
◼ Male, color blind: XbY
PEDIGREE ANALYSIS
 Pedigree analysis
 Use chart called pedigree to display family
relationships and to depict which relatives
have specific phenotypes and sometimes
genotypes.
 Pedigrees are important both for helping

families identify the risk of transmitting an

inherited illness.
 Pedigree analysis
 Usually represent males as squares and females as circle.
 A horizontal line connecting a circle and square represents a
mating.
 The generations in a pedigree are usually denoted by Roman
numerals.
Example Pedigree chart
CHANGES IN CHROMOSOME
STRUCTURE & NUMBER
 • Duplication
• Inversion
• Translocation
• Deletion
• Non disjunction
Changes in chromosome structure

 Physical and chemical disturbances as well as error

during meiosis can damage chromosome structure.
 Also called “gene mutation”.
 Duplication

 Inversion

 Translocation

 Deletion
 Changes in chromosome structure

1) Duplication
 When normal chromosomes have gene sequences that
are repeated several times to many hundreds of
thousands of times.
 No genetic disorder yet been linked with duplication
 Changes in chromosome structure

2) Inversion
 a linear stretch of DNA within a chromosome
becomes oriented in reverse direction with no
molecular loss.
 Changes in chromosome structure

3) Translocation
 involves the re-attachment of broken chromosomes
to non-homologous chromosomes.
 Normally, most translocations are reciprocal. (both
chromosomes exchange broken parts)
 Changes in chromosome structure

4) Deletion
 caused by viral attacks, irradiation, chemical assaults
and other environmental agents.
 Some fragments of a chromosome are loss.
 Changes in chromosome structure

4) Deletion
 Disorder: Cri du chat syndrome or cat cry syndrome
 Deletion of DNA on small arm of chromosome 5.
 Symptoms: high-pitched cat-like cry, mental retardation,
delayed development, etc.
 Changes in chromosome number
Non-disjunction
 Occasional mishaps, called non-disjunction occur in which the members

of a pair of homologous chromosomes do not move apart properly

during meiosis I or II.
 One gamete receives 2 of their same type chromosome, another
receives no copy.
 Changes in chromosome number

Non-disjunction
 Changes in chromosome number

 Trisomy 21 - Down syndrome

 Trisomy = [ n + 1 ] + [ n ] = 2n + 1
 Result of an extra chromosome
(chromosome 21) = total of 47
 Often called trisomy 21 – cells
are troisomic for chromosome
21
 A person with down syndrome is usually short and has
straight, sparse hair and protruding tongue.
 The likelihood of giving birth to a child with Down
syndrome increase dramatically with the age of the
mother.
 Changes in chromosome number

Non-disjunction
 Nondisjunction of sex chromosomes produces a variety of aneuploid

conditions.
Non-disjunction Also Can Change the
Number of Sex Chromosomes
 Changes in chromosome number

 Monosomy → [ n – 1 ] + [ n ] = 2n – 1
 Turner syndrome (45, XO)
 Single X chromosome
 Phenotypically female

 Physically short, sterile, had folds of

skin, had malformed elbows,
sexually underdeveloped.
 99% of affected fetuses are not
born.
 Changes in chromosome number

 Trisomy→ [ n + 1 ] + [ n ] = 2n + 1
 Klinefelter syndrome (47, XXY)
 More than one X chromosome.
 Male genitalia
 Male phenotype but small testes, small penis, breast
enlargement, absence of sperm in ejaculation, sterile.
 Low testosterone, high estradiol
 Triple X syndrome (XXX)
 47, XXX
 Female phenotype, healthy
 Have diminished fertility

 Supermale (XYY)
 47, XYY
 Do not exhibit well-defined syndrome
 Normal male, increase height
 Reduce sperm production
Dominant? SELF-CHECK

3:1?

Heterozygous?

10% 30% 50% 70% 80% 90%

EXERCISES
THAT’S ALL