Lecture 5: Variation in Chromosome Number

• Variation in chromosome number ranges from the addition or loss of one or more
chromosomes to the addition of one or more haploid sets of chromosomes.

Types of Variation
1. Aneuploidy- involves changes in chromosome number by additions or deletions of less than
a whole set
• Results from nondisjunction in meiosis or by chromosomal lagging whereby one
chromosome moves more slowly than the others during anaphase, is excluded from
the telophase nucleus, and is thus lost

First meiotic
First-division division Normal
nondisjunction disjunction

Second meiotic
division

Gametes

Haploid Trisomic Trisomic Monosomic Monosomic Haploid Disomic Disomic Trisomic Monosomic
gamete gamete (normal) (normal)

Nondisjunction events that may happen in meiosis 1 or meiosis 2.

(Klug, 2017)

•Monosomy- the loss of a single chromosome, represented as 2n - 1

•Double Monosomic- a cell missing two non-homologous chromosomes, represented
as 2n - 1 - 1
• Nullisomic- the loss of both members of a homologous pair of chromosomes
represented as 2n - 2
• Trisomy- the gain of a single chromosome, represented as 2n + 1
• Tetrasomy- the gain of two homologous chromosomes, represented as 2n + 2.
2. Euploidy- involves changes in whole sets of chromosomes
• Polyploidy- if more than two sets are present
• Common in the plant kingdom and it’s spontaneous origin plays an important
role in plant evolution
 TABLE 6.2 Examples of polyploid
crop plants
Type of Chromosome Chromosome
Plant polyploidy sets number

Potato Autopolyploid 4n 48

Banana Autopolyploid 3n 33

Peanut Autopolyploid 4n 40

Sweet potato Autopolyploid 6n 90

Tobacco Allopolyploid 4n 48

Cotton Allopolyploid 4n 52

Wheat Allopolyploid 6n 42

Oats Allopolyploid 6n 42

Sugarcane Allopolyploid 8n 80

Strawberry Allopolyploid 8n 56

Source: After F.C. Elliot, Plant Breeding and Cytogenetics (New York:
McGraw-Hill, 1958).

(Pierce, 2016)

• Autopolyploidy- the addition of one or more extra sets of chromosomes, identical to

the normal haploid complement of the same species
• Allopolyploidy (from the Greek word allo, meaning “other” or “different”)- the
combination of chromosome sets from different species occurring as a consequence of
hybridization.
• Triploid- organisms with three sets
• Tetraploid- those with four sets
(a) Autopolyploidy through mitosis

(b) Autopolyploidy through meiosis Gametes Zygotes

Fertilization

Nondisjunction in meiosis I …that then fuses with a

produces a 2n gamete… 1n gamete to produce
an autotriploid.

(Pierce, 2016)
Variation in Composition and Arrangement of Chromosomes Four Types of Changes in Chromosome Structure
3. Deletion- happens when a chromosome breaks in one or more places and a portion of it
is lost. It can occur either near one end or within the interior of the chromosome. These
are terminal and intercalary deletions, respectively. Example: In humans, the Cri Du Chat
syndrome results from the deletion of a small terminal portion of chromosome 5. This
syndrome was first reported by Jérôme Le Jeune in 1963, when he described the clinical
symptoms, including an eerie cry similar to the meowing of a cat, after which the
syndrome is named. Infants with this syndrome may exhibit anatomic malformations,
including gastrointestinal and cardiac complications, and they are often mentally
retarded. Abnormal development of the glottis and larynx (leading to the characteristic
cry) is typical of this syndrome..
4. Duplication- a single locus or a large piece of a chromosome is present more than once in
the genome; may arise as the result of unequal crossing over between synapsed
chromosomes during meiosis or through a replication error prior to meiosis. In the former
case, both a duplication and a deletion are produced. Duplications can cause phenotypic
variation that might at first appear to be caused by a simple gene mutation. Example: The
Bar-eye phenotype in Drosophila.
5. Inversion- is a type of chromosomal aberration in which a segment of a chromosome is
turned around 180 degrees within a chromosome. An inversion does not involve a loss of
genetic information but simply rearranges the linear gene sequence. An inversion requires
breaks at two points along the length of the chromosome and subsequent reinsertion of
the inverted segment.
6. Translocation- is the movement of a chromosomal segment to a new location in the
genome. Reciprocal translocation, for example, involves the exchange of segments
between two nonhomologous chromosomes. Example: familial Down Syndrome in
humans

(Klug, 2017)
2.2.2. Chromosome Variation in Humans
A. Sex-Chromosome Aneuploidies
• The most common aneuploidies seen in living because it is better tolerated than
aneuploidy of autosomal chromosomes

Common Examples
1. Klinefelter Syndrome- has a frequency of about 1 in 1000 male births
• The cells of most males who have this condition are XXY, but cells of a few males with
Klinefelter syndrome are XXXY, XXXXY, or XXYY
• Characteristics of male persons with this condition include: small testes, reduced facial
and pubic hair, taller than normal; sterile and most have normal intelligence
2. Turner Syndrome or Monosomy X- occurs about once in every 2,500 female births and is
the only known viable monosomy in humans.
• Although these X0 individuals are phenotypically female, they are sterile because their
sex organs do not mature. When provided with estrogen replacement therapy, girls
with Turner syndrome do develop secondary sex characteristics. Most have normal
intelligence.
3. Poly-X Females- about 1 in 1000 female births
• The infant’s cells possess three X chromosomes, a condition often referred to as triple-
X syndrome.
• These persons have no distinctive features other than a tendency to be tall and thin.
Although a few are sterile, many menstruate regularly and are fertile. The incidence of
intellectual disability among triple-X females is slightly greater than that in the general
population, but most XXX females have normal intelligence. Much rarer are females
whose cells contain four or five X chromosomes. These women usually have normal
female anatomy but are intellectually disabled and have a number of physical
problems. The severity of intellectual disability increases as the number of X
chromosomes increases beyond three.
4. XYY Males- males with an extra Y chromosome (XYY) which occur with a frequency of about
1 in 1000 male births.
• These individuals have no physical differences other than a tendency to be several
inches taller than the average of XY males. Their IQ is usually within the normal range,
although some studies suggest that learning difficulties may be more common than in
XY males.
 TABLE 4.2 Sex chromosomes
and associated sexual
phenotypes in humans
Sex chromosomes Phenotype Characteristics

XX Female Female traits

XY Male Male traits

XXY, XXYY, XXXY Klinefelter Male traits, tall, small

syndrome testes, reduced facial
and pubic hair

XO Turner Female traits, short,

syndrome low hairline, broad
chest, neck folds

XXX, XXXX, XXXXX Poly-X females Female traits, tall

and thin

XYY XYY males Male traits, tall

B. Autosomal Aneuploidies
• Less common than sex chromosome aneuploidies in humans, probably because there is
no mechanism of dosage compensation for autosomal chromosomes.
• Most embryos with autosomal aneuploidies are spontaneously aborted, though
occasionally fetuses with aneuploidies of some of the small autosomes, such as
chromosome 21, complete development. Because these chromosomes are small and
carry fewer genes, the presence of extra copies is less detrimental than it is for larger
chromosomes.

Common Examples
1. Down syndrome- also known as trisomy 21
• The most common autosomal aneuploidy in humans, about 1 in 700 human births with
higher incidence among children born to older mothers
• Approximately 92% of those who have Down syndrome have three full copies of
chromosome 21 (and therefore a total of 47 chromosomes), a condition termed
primary Down syndrome. Primary Down syndrome usually arises from spontaneous
nondisjunction in egg formation: about 75% of the nondisjunction events that cause
Down syndrome are maternal in origin, most arising in meiosis I. Most children with
Down syndrome are born to normal parents, and the failure of the chromosomes to
divide has little hereditary tendency.
• Characteristics include distinctive facial features, short stature, correctable heart
defects, and developmental delays, increased chance of developing leukemia and
Alzheimer’s disease but have a lower rate of high blood pressure, atherosclerosis
(hardening of the arteries), stroke, and many types of solid tumors. Although people
with Down syndrome, on average, have a life span shorter than normal, most, with
proper medical treatment, live to middle age and beyond. Almost all males and about
half of females with Down syndrome are sexually underdeveloped and sterile.
 Down syndrome caused by Trisomy 21.
(Pierce, 2016)

2. Edward syndrome- also known as Trisomy 18

• arises with a frequency of approximately 1 in 8000 live births and few live for more
than a year after birth
• Babies with Edward syndrome have severe intellectual disability, low-set ears, a short
neck, deformed feet, clenched fingers, heart problems, and other disabilities.
3. Patau syndrome- also known as Trisomy 13
• Has a frequency of about 1 in 15,000 live births and about half of this children will die
within the first month of life, and 95% die by the age of 3
• Characteristics of this condition include severe intellectual disability, a small head,
sloping forehead, small eyes, cleft lip and palate, extra fingers and toes, and numerous
other problems
4. Trisomy 8
• Arises with a frequency ranging from about 1 in 25,000 to 1 in 50,000 live births
• This aneuploidy is characterized by intellectual disability, contracted fingers and toes,
low-set malformed ears, and a prominent forehead
• Many people who have this condition have a normal life expectancy

Aneuploidy and Maternal Age

• Most cases of Down syndrome and other types of aneuploidy in humans arise from
maternal nondisjunction, and the frequency of aneuploidy increases with maternal age.
 90

80

Down syndrome per thousand births 70

Number of children with

60

50

40

30
s.

20

10

20 30 40 50
Maternal age

Incidence of Down Syndrome and Other Aneuploidies Increase

with Maternal Age. (Pierce, 2016)