CHROMOSOMA

L AND GENETIC
ABNORMALITIE
S
SREELEKSHMY M NAIR
ASSISTANT PROFESSOR
DEPARTMENT OF PSYCHOLOGY
AIGS
CHROMOSOMAL ABNORMALITIES
Chromosomal Abnormalities
● A chromosome abnormality reflects an abnormality of chromosome number or structure.
● Chromosome abnormalities usually occur when there is an error in cell division following
meiosis or mitosis.
● Can be organised into two basic groups.
Numerical abnormality and Structural abnormalities
● NUMERICAL ABNORMALITY
MONOSOMY: When an individual is missing either a chromosome from a pair.
TRISOMY:A trisomy is a type of polysomy in which there are three instances of a
particular chromosome, instead of the normal two. A trisomy is a type of aneuploidy (an
abnormal number of chromosomes)
has more than two chromosomes of a pair.
Structural abnormalities- when a chromosome structure is altered.
This can take several forms.
Structural chromosomal abnormalities occur when,
● A part of chromosome is missing.
● A part of chromosome is extra
● A part of chromosome has switched places with anothe part.
➢ Deletion - a portion of the chromosome is missing or deleted.
➢ In deletion, a segment of a chromosome breaks away leading to shortening
of the chromosome.
➢ Wolf-Hirschhorn syndrome, which is caused by partial deletion of the short
arm of chromosome 4
➢ Jacobsen syndrome, also called the terminal 11q deletion disorder.
● Duplication - a portion of the chromosome is duplicated resulting
in extra genetic material.
● Duplication refers to when a segment of the chromosome gets
repeated resulting in a longer chromosome.
● This can lead to conditions e.g., Charcot-Marie-Tooth disease
caused due to duplication of genes on chromosome 17.
● Charcot-Marie-Tooth is a degenerative nerve disease that usually
appears in adolescence or early adulthood.
● Muscle weakness, decreased muscle size, decreased sensation,
hammer toes and high arches are symptoms.
● Translocation - a portion of
one chromosome is transferred
to another chromosome.
● Reciprocal translocation:
Segments from two different
chromosomes have been
exchanged.
● Robertsonian translocation:
An entire chromosome has
attached to another at the
centromere - in humans these
only occur with chromosomes
13, 14, 15, 21 and 22.
● Inversion- when a portion
of chromosome is broken of,
turned upside down,
reattached and therefore
genetic material is inverted.

● Rings: A portion of a
chromosome has broken off
and formed a circle or ring.
This can happen with or
without loss of genetic
material
 NUMERICAL
ABNORMALITIES
DOWN SYNDROME
❖ Down syndrome is a genetic
condition that arises due to
presence of an extra
chromosome 21.
❖ The chromosome 21 is
repeated thrice (trisomy 21)
instead of showing up twice in
a normal individual
❖ The karyotype of Down
syndrome is represented as
47, XX, +21 (females) and
47, XY, +21 (males).
 Symptoms
Some of the distinguishing features
of Down's syndrome are,

❖ flat face
❖ slanting eye
❖ small mouth
❖ protruding tongue
❖ flattened nose
❖ short neck
❖ short arms and legs
❖ single deep crease across the
palm
❖ low IQ
❖ stunted growth
❖ underdeveloped gonads
(primary reproductive organs)
Klinefelter's syndrome
● Incidence: Occurs in approximately 1 out of 1000 new born males.
● Genotype: 47, XXY. Affects males.
● The extra chromosome is not transmitted genetically (i.e., a
Klinefelter newborn cannot have a Klinefelter father) but arises from
inability of X chromosome to detach itself from the pair during
meiosis (at the time of gamete formation).
● Fertilisation of an XX ova with a Y sperm produces an XXY zygote.
Symptoms
● Klinefelter's syndrome children are unusually tall
for their age,
● have reduced facial and body hair,
● smaller testes
● enlarged breasts
● coarse voice
● One of the most frequent methods to diagnose Klinefelter syndrome
is through Barr body test of buccal smear.
● Normally no Barr body appears in the male buccal smear.
● However, in Klinefelter one Barr body shows up, indicating the
presence of an extra X chromosome.
● At the time of birth, babies with Klinefelter differ a little with other
normal babies. However, as the age increase the differences
become noticeable, especially at the time of puberty.
● Testosterone treatmen
● t
Turner's Syndrome
● Incidence: Occurs in 1 in 2,500 newborn girls, frequently observed
in miscarriages and still births.
● Chromosomal basis: Affects females, arises due to the missing X
chromosome in affected females. This is called monosomy X
● the karyotype is represented as: 45, X.
● A cell division error during meiosis of an ovum results in an ovum
with no X chromosome and other with two X chromosomes.
● The ovum with no X chromosome fuses with sperm with one X
chromosome to generate 45, X condition.
● this condition is not inherited.
● short stature,
● webbed neck (i.e., the neck
skin is unusually loose and
can be pulled several
centimetres of the neck)
● small breasts
● low set ears (i.e., ears are
placed below the normal
position)
● swollen hands and feet.
● ovaries are under
developed
● menstrual periods are
usually absent
● Prenatal chromosomal diagnosis usually happens through
amniocentesis or chorionic villus sampling.
● At puberty the first test is that of Barr body of buccal smear. The
absence of Barr body is the first indicator to follow up the condition
with a detailed investigation.
● there is no permanent cure.
● growth and ovarian functions can be strengthened by the controlled
administration of hormones androgen and estrogen.
Sickle cell anemia
● Sickle cell anemia, or sickle cell disease
(SCD), is a genetic disease of the red
blood cells (RBCs).
● RBCs are shaped like discs (normal),
which gives them the flexibility to travel
through even the smallest blood vessels
● with this disease, the RBCs have an
abnormal crescent shape resembling
a sickle.
● This makes them sticky and rigid and
prone to getting trapped in small
vessels, which blocks blood from
reaching different parts of the body.
This can cause pain and tissue damage.
Sickle cell anemia
● Sickle cell disease is caused by a
mutation in the hemoglobin-β
gene found on chromosome 11.
● This results in a defective
hemoglobin (Hb). After giving up
oxygen these defective Hb
molecules cluster together
resulting in formation of rod like
structures.
● The red blood cells become stiff and
assume sickle shape.
● Sickle cell anemia is
determined by an
allele which we can
designate as s and
the normal condition
by S. The person
affacted by the
disease will have a
genotype of s/s and
unaffected ones will
be either S/S or S/s.
Tay – Sachs
Disease

● Affected infants lose motor

skills such as turning over,
sitting, and crawling. They
also develop an exaggerated
startle reaction to loud
noises.
● As the disease progresses,
children with Tay-Sachs
disease experience seizures,
vision and hearing loss,
intellectual disability, and
paralysis
● CNS degrades, ultimately
causing death
Phenylketonuria (PKU)
● Phenylketonuria (PKU), is a rare inherited disorder that causes an
amino acid called phenylalanine to build up in the body.
● PKU is caused by a defect in the gene that helps create the enzyme
needed to break down phenylalanine.
● Without the enzyme necessary to process phenylalanine, a dangerous
buildup can develop when a person with PKU eats foods that contain
protein or eats aspartame, an artificial sweetener. This can eventually
lead to serious health problems.
● For the rest of their lives, people with PKU — babies, children and
adults — need to follow a diet that limits phenylalanine, which is
found mostly in foods that contain protein.