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CHROMOSOMAL
CHROMOSOMAL MUTATION
involve changes in the number or structure
of chromosomes. These mutations can

MUTATION 12th
change the location of genes on
chromosomes and can even change the
number of copies of some genes.
grade

Several factors, including faults in

MITOSIS and
THREE TYPES OF CHROMOSOMAL
MUTATIONS EXIST:
MEIOSIS, the ● Mutations on the structure of
ENVIRONMENT, and even the chromosomes
MOTHER’S AGE
are linked to chromosomal defects.
● Mutations on the chromosome
number
● Mutations on the sex
chromosomes

A chromosomal fragment can be

DUPLICATIONS duplicated or deleted in addition to the
loss or gain of a complete chromosome.
01 AND DELETIONS Duplications and deletions frequently
result in kids with physical and mental
defects.

Duplicated chromosomal segments can

either join to existing chromosomes or
persist as free chromosome segments in
the nucleus.

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CHROMOSOMAL STRUCTURE
CHROMOSOMAL REARRANGEMENTS
02 STRUCTURE
REARRANGEMENTS
INVERSION TRANSLOCATION
involves the breakage of a chromosome in A translocation occurs when a piece of one
two places; the resulting piece of DNA is chromosome breaks off and attaches to
reversed and re-inserted into the another chromosome.
chromosome

INVERSION INVERSION
Genetic material may or may not be lost as a result of the chromosome breaks. Genetic material may or may not be lost as a result of the chromosome breaks.

PERICENTRIC INVERSION PERICENTRIC INVERSION

An inversion that involves the An inversion that involves the
chromosome's constriction point chromosome's constriction point
(centromere) (centromere)

PARACENTRIC INVERSION PARACENTRIC INVERSION

An inversion that occurs in the long An inversion that occurs in the long
(q) arm or short (p) arm and does (q) arm or short (p) arm and does
not involve the centromere not involve the centromere

CHROMOSOMAL STRUCTURE TRANSLOCATION

REARRANGEMENTS This type of rearrangement may be described as balanced or unbalanced.

BALANCED TRANSLOCATION
Also known as Reciprocal
translocation, this occurs when
no genetic material is gained or
lost in the cell.

UNBALANCED
INVERSION TRANSLOCATION
involves the breakage of a chromosome in A translocation occurs when a piece of one
TRANSLOCATION
Also known as Robertsonian
two places; the resulting piece of DNA is chromosome breaks off and attaches to
translocation, this happens when
reversed and re-inserted into the another chromosome. there is a gain or loss of genetic
chromosome material.

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TRANSLOCATION
This type of rearrangement may be described as balanced or unbalanced. DISORDERS IN
BALANCED TRANSLOCATION
Also known as Reciprocal
03 CHROMOSOME
translocation, this occurs when
no genetic material is gained or NUMBER
lost in the cell.

UNBALANCED
TRANSLOCATION
Also known as Robertsonian
translocation, this happens when
there is a gain or loss of genetic
material.

NONDISJUNCTION
CHROMOSOME happens when pairs of homologous chromosomes or sister chromatids
fail to split during meiosis
NUMBER IRREGULARITIES
are the easiest to identify on a karyogram
out of all the chromosomal disorders.
Duplication or loss of entire chromosomes, as
well as alterations in the number of full sets
of chromosomes, are all examples of
chromosomal number disorders.

NONDISJUNCTION

NONDISJUNCTION
• This can happen during meiosis I or II, with
different consequences.
• When homologous chromosomes fail to split
PLOIDY
during meiosis I, two gametes are produced refers to the number of complete sets of
with no copies of the chromosome and two chromosomes in a cell.
gametes with two copies of the
chromosome.
• If sister chromatids fail to split during
meiosis II, one gamete will be missing that
chromosome, two normal gametes will have
one copy of the chromosome, and one
gamete will have two copies.

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EUPLOIDY, ANEUPLOIDY, and POLYPLOIDY GENE DOSAGE

• is the number of copies of a
particular gene present in a
EUPLOIDY ANEUPLOIDY POLYPLOIDY genome.
● Euploidy is equivalent to ● A condition when there ● A condition when there • is related to the amount of gene
22 pairs of autosomes is a chromosome are more than the product (proteins or functional
and one pair of sex number defect. required number of
RNAs) the cell is able to express
chromosome chromosomal sets (two
● Monosomy is the case for diploid species). • Since a gene acts as a template,
● The normal condition when there is one
the number of templates in the
having a complete set of chromosome missing. ● When an abnormal
chromosomes. diploid egg is fertilized
cell contributes to the amount of
● Trisomy is the case when with a normal haploid gene product able to be
there is an extra sperm, this results to s produced.
chromosome. triploid zygote. • Changes in gene dosage can have
significant phenotypic
consequences on organisms.

A different type of genetic imbalance affects

MONOSOMIC trisomic people: an excess of gene dosage.
human zygotes missing
any one copy of an
autosome usually fail to Individuals who have an additional chromosome
develop to birth. can make a lot of the gene products that the
Most autosomal chromosome encodes.
TRISOMIES
do not develop to the point of This higher dose (150 percent) of specific
birth; however, duplications of genes can cause a variety of functional issues
any of the smaller chromosomes and can even delay development.
(13, 15, 18, 21, or 22) can result in
kids who live for weeks to years.

CRI-DU-CHAT
• Babies with the "cry of the cat" syndrome have a
CHROMOSOMAL cry which sounds like that of a cat in distress

04 ANOMALIES
because the infant's larynx is improperly
developed.

• The cause of this condition is a deletion of about

half of the short arm of chromosome number
five.
• Cri-du-chat babies are severely mentally
retarded, have a small cranium, a small jaw and
a moon-shaped face.

• Karyotype: 46XX or 46XY with one chromosome

#5 upper arm deletion

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DOWN’S SYNDROME EDWARD’S SYNDROME

• Trisomy 21, one of the most common causes of • This syndrome, trisomy 18 (an extra
mental retardation is due to an extra chromosome 18), produces severe mental
chromosome 21. retardation and a highly characteristic pattern of
malformations such as elongated skull, a very
• This results in several characteristic features, narrow pelvis, rocker bottom feet, malformed
such as short stature, broad hands, stubby heart and a grasping of the two central fingers
fingers and toes, a wide rounded face, a large by the thumb and little finger.
protruding tongue that makes speech difficult
and mental retardation. • In addition, the ears are often low set and the
mouth and teeth are small.
• Individuals with this syndrome have a high
incidence of respiratory infections, heart defects • Nearly all babies born with this condition die in
and leukemia. early infancy.

• Karyotype: 47XX or 47XY with 3 of the • Karyotype: 47XX or 47XY with 3 of the
chromosome #21 chromosome #18

PATAU’S SYNDROME WOLF-HIRSCHHORN SYNDROME

• This is a serious, rare genetic disorder caused by • Wolf-Hirschhorn syndrome (WHS) is a genetic
having an additional copy of chromosome 13 in disorder that affects many parts of the body.
some or all of the body's cells.
• The major features include a characteristic facial
• This severely disrupts normal development and, appearance, delayed growth and development,
in many cases, results in miscarriage, stillbirth or intellectual disability, low muscle tone (hypotonia),
the baby dying shortly after birth. and seizures.

• Babies with Patau's syndrome grow slowly in the • Other features may include skeletal abnormalities,
womb and have a low birth weight, along with a congenital heart defects, hearing loss, urinary tract
number of other serious medical problems. malformations, and/or structural brain
abnormalities.
• The risk of having a baby with the syndrome
increases with the mother's age. • WHS is caused by a missing piece (deletion) of
genetic material near the end of the short (p) arm
• Karyotype: 47XX or 47XY with 3 of the of chromosome 4 (written as 4p-).
chromosome #13

JACOBSEN SYNDROME TURNER’S SYNDROME

• Jacobsen syndrome is a condition characterized by • A condition that affects only females, results when
the deletion of several genes on chromosome 11. one of the X chromosomes (sex chromosomes) is
missing or partially missing.
• Signs and symptoms vary among affected people
but often include Paris-Trousseau syndrome (a • Turner syndrome can cause a variety of medical
bleeding disorder); distinctive facial features; and developmental problems, including short
delayed development of motor skills and speech; height, failure of the ovaries to develop and heart
and cognitive impairment. defects.
• Other features may include compulsive behavior;
attention deficit-hyperactivity disorder (ADHD);
congenital heart defects; short stature; and/or
skeletal abnormalities.

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JACOB’S SYNDROME TRIPLE X SYNDROME

• A chromosome abnormality which is caused by • Girls with triple X syndrome — also known as
nondisjunction (non-separation) of the Y XXX syndrome, trisomy X, and 47,XXX — might
chromosome during the second phase of be taller than other girls.
meiosis.
• Other symptoms can include problems with
• This condition only occurs in men and happens spoken language and processing spoken words,
when they have an extra Y chromosome. coordination problems, and weaker muscles.
• Men with this abnormality are tall, develop • Most girls with triple X syndrome can grow up
heavy cases of acne and have low mental ability. healthy, have normal sexual development and

• Karyotype: 47XYY (extra sex chromosome -

fertility, and lead productive lives.

extra Y)

KLINEFELTER’S SYNDROME
• Characteristics associated with this condition
are tall stature, small testicles, developed
breasts, sterility and mental deficiency.

• Most men with this syndrome appear normal in

other ways.

• This syndrome only occurs in men and affects

the sex chromosomes.
• Karyotype: 47XXY or 48XXXY (extra sex
chromosomes)