Human Karyotype

1. The human karyotype contains 22 pairs of autosomal

chromosomes and a pair of sex chromosomes.
2. The normal karyotype for a female contains a pair of X
chromosomes, whereas the normal karyotype for a male contains
an X and a Y chromosome [1] .
3. Variations in the human karyotype can lead to genetic
disorders. These can be sex linked disorders such as
Klinefelter's Syndrome or Turner syndrome. These have he
genotypes 47 XXY and 45 XO respectively, and cause infertility
as well as changes in appearance.
4. When a Y chromosome is present, the person always primarily
appears male.
5. Trisomies can also occur such as Down's Syndrome (trisomy 21)
or Edwards Syndrome (trisomy 18). A trisomy is where three of
one chromosome is present in the karyotype.
 CYSTIC FIBROSIS

1. Every person has two copies of the cystic fibrosis

transmembrane conductance regulator (CFTR) genes
2. People who inherit one copy of the CFTR gene that contains a
mutation and one normal copy are considered CF carriers. CF
carriers do not have the disease but can pass their copy of the
defective gene on to their children.
3. Cystic fibrosis is caused by mutations in the gene that produces
the cystic fibrosis transmembrane conductance regulator (CFTR)
protein.

4. This protein is responsible for regulating the flow of salt and

fluids in and out of the cells in different parts of the body.
5. Mutations in the CFTR gene cause the CFTR protein to
malfunction or not be made at all, leading to a buildup of thick
mucus, which in turn leads to persistent lung infections,
destruction of the pancreas, and complications in other organs.
6. Cystic fibrosis is an example of a recessive disease. That means a person
must have a mutation in both copies of the CFTR gene to have CF. If
someone has a mutation in only one copy of the CFTR gene and the other
copy is normal, he or she does not have CF and is a CF carrier. About 10
million people in the United States are CF carriers.
7. CF carriers can pass their copy of the CFTR gene mutation to their
children. Each time two CF carriers have a child together, the chances are:
8. 25 percent (1 in 4) the child will have CF
9. 50 percent (1 in 2) the child will be a carrier but will not have CF
10. 25 percent (1 in 4) the child will not be a carrier of the gene and will not
have CF
 DIABETICS

1. Tyype 2 diabetes has several causes: genetics and lifestyle are

the most important ones. A combination of these factors can
cause insulin resistance, when your body doesn’t use insulin as
well as it should. Insulin resistance is the most common cause of
type 2 diabetes.
2. Fatigue: Your body isn’t getting the energy it needs from the food you’re
eating, so you may feel very tired.
3. Extreme thirst: No matter how much you drink, it feels like you’re still
dehydrated. Your tissues (such as your muscles) are, in fact, dehydrated
when there’s too much glucose (sugar) in your blood. Your body pulls
fluid from the tissues to try to dilute the blood and counteract the high
glucose, so your tissues will be dehydrated and send the message that you
need to drink more. This is also associated with increased urination.
4. Frequent urination: This is related to drinking so much more in an
attempt to satisfy your thirst. Since you’re drinking more, you’ll have to
 urinate more. Additionally, the body will try to get rid of the excess
glucose through urination.
5. Extreme hunger: Even after you eat, you may still feel very
hungry. That’s because your muscles aren’t getting the energy they need
from the food; your body’s insulin resistance keeps glucose from entering
the muscle and providing energy. Therefore, the muscles and other tissues
send a “hunger” message, trying to get more energy into the body.
6. Infections: The effects of type 2 diabetes make it harder for your body to
fight off an infection, so you may experience frequent infections. Women
may have frequent vaginal (yeast) and/or bladder infections. That’s
because bacteria can flourish when there are high levels of glucose in the
blood.
 HUNTING DISEASE
1. Huntington's disease (HD), also known as Huntington's
chorea, is an inherited disorder that results in death of brain
cells The earliest symptoms are often subtle problems with mood
or mental abilities A general lack of coordination and an
unsteady gait often follow. As the disease advances,
uncoordinated, jerky body movements become more apparent
Physical abilities gradually worsen until coordinated movement
becomes difficult and the person is unable to talk. Mental
abilities generally decline into dementia

2. All humans have two copies of the Huntingtin gene (HTT),

which codes for the protein Huntingtin (HTT). The gene is also
called HD and IT15, which stands for 'interesting transcript 15'.
Part of this gene is a repeated section called a trinucleotide
repeat, which varies in length between individuals and may
change length between generations
3. If the repeat is present in a healthy gene, a dynamic mutation
may increase the repeat count and result in a defective gene.
When the length of this repeated section reaches a certain
threshold, it produces an altered form of the protein, called
mutant Huntingtin protein (mHTT).
4. The differing functions of these proteins are the cause of
pathological changes which in turn cause the disease symptoms.

5. The Huntington's disease mutation is genetically dominant and

almost fully penetrant: mutation of either of a person's HTT
alleles causes the disease. It is not inherited according to sex,
but the length of the repeated section of the gene and hence its
severity can be influenced by the sex of the affected parent.
 HYPER TRYCHOSIS

1. Hypertrichosis is an abnormal amount of hair growth over the

body.
2. The two distinct types of hypertrichosis are generalized
hypertrichosis, which occurs over the entire body, and localized
hypertrichosis, which is restricted to a certain area.
Hypertrichosis can be either congenital (present at birth) or
acquired later in life.
3. The excess growth of hair occurs in areas of the skin with the
exception of androgen-dependent hair of the pubic area, face,
and auxiliary regions.
 KLENFEKTER SYNDROME

1. Klinefelter’s syndrome is a chromosomal condition that affects

male physical and cognitive development. Its signs and
symptoms vary among affected individuals.
2. Affected individuals typically have small testes that do not
produce as much testosterone as usual.
3. Testosterone is the hormone that directs male sexual
development before birth and during puberty. A shortage of
testosterone can lead to delayed or incomplete puberty, breast
enlargement (gynecomastia), reduced facial and body hair, and
an inability to have biological children (infertility).
4. Some affected individuals also have genital differences
including undescended testes (cryptorchidism), the opening of
the urethra on the underside of the penis (hypospadias), or an
unusually small penis (micropenis).
5. Older children and adults with Klinefelter’s syndrome tend to be
taller than their peers. Compared with unaffected men, adults
with Klinefelter’s syndrome have an increased risk of
developing breast cancer and a chronic inflammatory disease
called systemic lupus erythematosus. Their chance of developing
these disorders is similar to that of women in the general
population.
6. Children with Klinefelter’s syndrome may have learning
disabilities and delayed speech and language development. They
tend to be quiet, sensitive, and unassertive, but personality
7.
8.
9. characteristics vary among affected individuals.
 MUSCULAR DYSTROPHY

1. Muscular dystrophy (MD) is a group of muscle diseases that

results in increasing weakening and breakdown of skeletal
muscles over time

2. They are due to mutations in genes that are involved in making

muscle proteins.

3. This can occur due to either inheriting the defect from one's
parents or the mutation occurring during early development.

4. Disorders may be X-linked recessive, autosomal recessive, or

autosomal dominant.
5.
Dystrophin protein is found in muscle fibre membrane; its
helical nature allows it to act like a spring or shock absorber.
Dystrophin links actin in the cytoskeleton and dystroglycans of
the muscle cell plasma membrane, known as the sarcolemma
 PATUA SYNDROME

Trisomy 13 is also called Patau syndrome, after the physician who first
described the disorder.

1. Babies with trisomy 13 often have a normal birth weight, a small

head and a sloping forehead. Noses are usually large
("bulbous"), ears are low-set and unusual in shape, eye defects
occur frequently, and cleft lip and palate as well as he art defects
are very common.
2. Many babies with trisomy 13 are born with small areas of
missing skin on the scalp (cutis aplasia), which resemble ulcers.
3. The brains in babies with trisomy 13 usually have major
structural problems and often, the brain does not divide properly
into two hemispheres, resulting in a condition called
holoprosencephaly.
4. Many babies with trisomy 13 have extra fingers and toes
(polydactyly). Some present with a sac attached to the abdomen
in the area of the umbilical cord (omphalocele),
 RETTS SYNDROME
1. The first symptom of Rett syndrome is usually the loss of
muscle tone, called hypotonia (pronounced hahy-poh-TOH-nee-
uh). 1 With hypotonia, an infant's arms and legs will appear
"floppy."
2. Loss of ability to grasp and intentionally touch things

3. Loss of ability to speak. (Initially, a child may stop saying words or

phrases that he or she once said; later, the child may make sounds, but not
say any purposeful words.)
4. Severe problems with balance or coordination, leading to loss of
the ability to walk
5. Rett syndrome is due to a genetic mutation of the MECP2 gene
This gene occurs on the X chromosome. Typically it develops as
a new mutation, with less than one percent of cases being
inherited from a person's parents Boys who have a similar
mutation typically die shortly after birth.
 DOWNS SYNDROME

1. Down syndrome (DS or DNS), also known as trisomy 21, is a

genetic disorder caused by the presence of all or part of a third
copy of chromosome 21.
2. It is typically associated with physical growth delays,
characteristic facial features and mild to moderate intellectual
disability.
3. The average IQ of a young adult with Down syndrome is 50,
equivalent to the mental ability of an 8 - or 9-year-old child, but
this can vary widely.
4. The parents of the affected individual are typically genetically
normal. The extra chromosome occurs by chance. The possibility
increases from less than 0.1% in 20-year-old mothers to 3% in
those age 45.
5. There is no known behavioral activity or environmental factor
that changes the possibility
 TAY SACCHS DISEASE

1. Tay-Sachs is a disease of the central nervous system. It is a

neurodegenerative disorder that most commonly affects
infants. In infants, it is a progressive disease that is
unfortunately always fatal. Tay-Sachs can also occur in teens
and adults, causing less severe s ymptoms,
2. People with the adult form of Tay-Sachs disease usually have these
symptoms:
muscle weakness, slurred speech, unsteady gait, memory problems,
tremors

3. A defective gene on chromosome 15 (HEX -A) causes Tay-

Sachs disease. This defective gene causes the body to not
make a protein called hexosaminidase A. Without this
protein, chemicals called gangliosides build up in nerve cells
in the brain, destroying brain cells.
4. The disease is hereditary, which means it i s passed down
through families. You have to receive two copies of the
defective gene — one from each parent — to become
affected.
5. If only one parent passes down the defective gene, the child
becomes a carrier. They will not be affected, but may pass
the disease down to their own children
 SICKLE CELL ANEMIA
1. Sickle-cell disease occurs when a person inherits two abnormal
copies of the haemoglobin gene, one from each parent. This gene
occurs in chromosome 11
2. The gene defect is a known mutation of a single nucleotide (see
single-nucleotide polymorphism – SNP) (A to T) of the β-globin
gene, which results in glutamic acid (E/Glu) being substituted by
valine (V/Val) at position 6.
3. Hemoglobin S with this mutation is referred to as HbS, as
opposed to the normal adult HbA.
4. Several subtypes exist, depending on the exact mutation in each
haemoglobin gene.
5. An attack can be set off by temperature changes, stress,
dehydration, and high altitude. A person with a single abnormal
copy does not usually have symptoms and is said to have sickle-
cell trait. Such people are also referred to as carriers
6. vaso-occlusive crisis is caused by sickle-shaped red blood cells
that obstruct capillaries and restrict blood flow to an organ
resulting in ischaemia, pain, necrosis, and often organ damage.
The frequency, severity, and duration of these crises vary
considerably. Painful crises are treated with hydration,
analgesics, and blood transfusion
 TURNERS SYNDROME
1. Turner syndrome (TS), also known as 45,X or 45,X0, is a
condition in which a female is partly or completely missing an X
chromosome.
2. Often, a short and webbed neck, low-set ears, low hairline at the
back of the neck, short stature, and swollen hands and feet are
seen at birth.
3. Typically, they develop menstrual periods and breasts only with
hormone treatment, and are unable to have children without
reproductive technology. Heart defects, diabetes, and low
thyroid hormone occur more frequently. Most people with TS
have normal intelligence. Many, however, have troubles with
spatial visualization that may be needed for mathematics. Vision
and hearing problems occur more often
4. In the majority of cases where monosomy occurs, the X
chromosome comes from the mother.
5. This may be due to a nondisjunction in the father. Meiotic errors
that lead to the production of X with p arm deletions or
abnormal Y chromosomes are also mostly found in the father.
Isochromosome X or ring chromosome X on the other hand are
formed equally often by both parents Overall, the functional X
chromosome usually comes from the mother.
 ALBINISM
1. Albinism in humans is a congenital disorder characterized by
the complete or partial absence of pigment in the skin, hair and
eyes
2. Albinism results from inheritance of recessive gene alleles and
is known to affect all vertebrates, including humans.
3. It is due to absence or defect of tyrosinase, a copper-containing
enzyme involved in the production of melanin. It is the opposite
of melanism.
4. Unlike humans, other animals have multiple pigments and for
these, albinism is considered to be a hereditary condition
characterized by the absence of melanin in p articular, in the
eyes, skin, hair, scales, feathers or cuticle.
5. While an organism with complete absence of melanin is called
an albino an organism with only a diminished amount of melanin
is described as leucistic or albinoid.
 COLOUR BLINDNESS

1. Color blindness, also known as color vision deficiency, is the

decreased ability to see color or differences in color.
2. Males are more likely to be color blind than females, as the
genes responsible for the most common forms of color blindness
are on the X chromosome.
3. As females have two X chromosomes, a defect in one is
typically compensated for by the other, wh ile males only have
one X chromosome.
4. Two of the most common inherited forms of color blindness are
protanomaly (and, more rarely, protanopia – the two together
often known as "protans") and deuteranomaly (or, more rarely,
deuteranopia – the two together often referred to as "deutans").
5. Both "protans" and "deutans" (of which the deutans are by far
the most common) are known as "red–green color-blind" which
is present in about 8 percent of human males and 0.6 percent of
females
 TRIPLE-X SYNDROME

1. Triple X syndrome, also known as trisomy X and 47,XXX, is

characterized by the presence of an extra X chromosome in each
cell of a female.
2. Usually there are no other physical differences and normal
fertility. Occasionally there are learning difficulties, decreased
muscle tone, seizures, or kidney problems.
3. Triple X is due to a random event. Triple X can result either
during the division of the mother's reproductive cells or during
division of cells during early development.
4. It is not typically inherited from one generation to the next. A
form where only a percentage of the body cells contain XXX can
also occur.
5. Triple X syndrome is not inherited, but usually, occurs as an
event during the formation of reproductive cells (ovum and
sperm). An error in cell division called nondisjunction can result
in reproductive cells with additional chromosomes. For example,
 an oocyte or sperm cell may gain an extra copy of the X
chromosome as a result of the non -disjunction. If one of these
cells contributes to the genetic makeup of a child, the child will
have an extra X chromosome in each of her cells. In some cases,
trisomy X occurs during cell division in early embryonic
development.
6. Some females with triple X syndrome have an extra X
chromosome in only some of their cells. These cases are called
46,XX/47,XXX mosaics.
 CRI-DUCHAT SYNDROME

1. Cri-du-chat (cat's cry) syndrome, also known as 5p - (5p minus)

syndrome, is a chromosomal condition that results when a piece
of chromosome 5 is missing.
2. Infants with this condition often have a high -pitched cry that
sounds like that of a cat. The disorder is characterized by
intellectual disability and delayed development, small head size
(microcephaly), low birth weight, and weak muscle tone
(hypotonia) in infancy.
3. Affected individuals also have distinctive facial features,
including widely set eyes (hypertelorism), low -set ears, a small
jaw, and a rounded face.
4. Some children with cri-du-chat syndrome are born with a heart
defect.