This document discusses several genetic disorders and abnormalities that can be caused by mutations or chromosome abnormalities: 1. Sickle cell anemia results from a single point mutation in the hemoglobin gene and causes red blood cells to take on a sickle shape, clogging blood vessels. 2. Cystic fibrosis is caused by a mutation affecting mucus and sweat glands, causing thick mucus buildup that can damage organs like the lungs. 3. Down syndrome, Klinefelter syndrome, Turner syndrome, and Patau's syndrome involve extra or missing chromosomes, leading to developmental delays and physical abnormalities. 4. Other disorders discussed include Tay-Sachs disease, hemophilia,

1. DISEASES AND
ABNORMALITIES CAUSED BY
MUTATION

2. Genetic Disorders
-These disorders can be caused by a mutation
in a single gene, multiple gene
mutations, combined gene mutation, and
environmental factors, or by chromosome
mutation or damage.

3. a. Sickle Cell Anemia
Sickle cell anemia is a genetic disease common
among those who are from Africa. This
genetic disease is the result of a point mutation where
there is a change in just one nucleotide
in the gene for hemoglobin. The mutation causes the
hemoglobin in red blood cells to
transform to a sickle shape when de-oxygenated. Since
the shape is altered, it cuts of blood
circulation and clogs the capillaries.

5. b. Cystic Fibrosis
is a genetic condition that affects a protein in the body.
People who have cystic fibrosis have a faulty protein that affects
the body’s cells, tissues, and the glands that make mucus and
sweat.
Mucus is normally slippery and protects the linings of the
airways, digestive tract, and other organs and tissues. People who
have cystic fibrosis make thick, sticky mucus that can build up and
lead to blockages, damage, or infections in the affected organs.
Inflammation also causes damage to organs such as the lungs
and pancreas.

7. c. Tay-Sachs Disease
is a rare genetic disorder passed from parents to child.
It's caused by the absence of an enzyme hexosaminidase-A (Hex-
A )that helps break down fatty substances.
These fatty substances, called gangliosides, build up to toxic
levels in the brain and spinal cord and affect the function of the
nerve cells.
Tay-Sachs is a recessively inherited disease that only occurs
when both parents carry a Tay-Sachs gene and each parent
transmits the defective gene to their child
Tay-Sachs genes are located on chromosome 15.

9. d. Hemophilia
usually an inherited bleeding disorder in which the blood
does not clot properly. This can lead to spontaneous bleeding as
well as bleeding following injuries or surgery. Blood contains
many proteins called clotting factors that can help to stop
bleeding. People with hemophilia have low levels of these
clotting factors. The lower the amount of the factor, the more
likely it is that bleeding will occur which can lead to serious
health problems. Hemophilia is caused by a mutation or change,
in one of the genes, that provides instructions for making the
clotting factor proteins needed to form a blood clot.

11. e. Down Syndrome
or trisomy 21 is the most common chromosomal disorder.
People with Down syndrome have 47 chromosomes in their cells
instead of 46, and suffer from mild to
moderate disabilities. Delayed development and behavioral
problems are often reported in children with down syndrome.
Common physical traits include a flat face, small head and short
neck, and upward slanting eyes.

13. f. Klinefelter Syndrome
also known as XXY condition is a chromosomal
condition that affects male physical and cognitive
development. The most common symptom of Klinefelter
syndrome is infertility. Some common symptoms include
small penis, small firm testes, less
pubic, armpit and facial hair, enlarged breasts, tall stature
and abnormal body proportions.

15. g. Prader Willi Syndrome
is a complex genetic disorder that affects growth, metabolism,
appetite, cognitive function, behavioral problems, low levels of sex
hormones and
a constant feeling of hunger. It is caused by the loss of genes in a
specific region of chromosome 15. There is no cure for PWS,
growth hormone, exercise, and dietary supervision can help build
muscle mass and control weight.
It is characterized by small hands and feet, abnormal growth
and body composition (small stature, early onset childhood
obesity), hypotonia (weak muscles) at birth, hypogonadism,
insatiable hunger, extreme obesity, and intellectual disability.

17. h. Turner Syndrome
is a rare chromosomal ailment that impacts girls. It is
associated with the x chromosome that alters development in
women, even though it isn't normallyinherited in families. The most
consistent functions of TS are brief stature and lack of ovarian
development. Most women with Turner syndrome are infertile.
a condition that affects only females, results when one of the X
chromosomes (sex chromosomes) is missing or partially missing.

19. i. Edward’s Syndrome
Edwards Syndrome (also known as Trisomy 18 (T18) or Trisomy E)
is a genetic disorder caused by the presence of all or part of an extra
18th chromosome. The majority of
people with the syndrome die during the fetal stage; infants who
survive experience serious defects and commonly live for short
periods of time. Edwards' syndrome is associated with a
broad spectrum of abnormalities which consist of greater than one-
hundred and thirty discrete defects involving the brain, heart,
craniofacial structures, kidneys and stomach.

21. j. Cri du chat syndrome is a rare genetic disorder caused
by missing pieces on a particular chromosome.
•It is not the result of anything the parents have done or
failed to do.
•The characteristics of a newborn with cri du chat
syndrome include a high-pitched cry, a small head and a
flattened bridge of the nose.
• caused by a missing section on a particular chromosome
known as Chromosome 5.

23. k. Jacobsen Syndrome
Jacobsen syndrome is a condition caused by a loss of genetic
material from chromosome 11. Because this deletion occurs at the
end (terminus) of the long (q) arm of chromosome 11, Jacobsen
syndrome is also known as 11q terminal deletion disorder.
Individuals with this disorder have delayed development,
including the development of speech and motor skills
(such as sitting, standing, and walking). Most also have cognitive
impairment and learning
difficulties

25. l. Patau’s syndrome
is a serious rare genetic disorder caused by having an
additional copy of chromosome 13 in some or all of the body's
cells. It's also called trisomy 13.
But a baby with Patau's syndrome has 3 copies of chromosome
13, instead of 2.
This severely disrupts normal development and, in many cases,
results in miscarriage, stillbirth or the baby dying shortly after birth.