Genetic Description Websites

Alzheime A progressive brain

r’s disorder that gradually
Disease destroys a person’s
memory and ability to
learn, reason, make
judgments, and

Angelma Prader-Willi syndrome
n is an uncommon
Syndrom inherited disorder
characterized by man
e/ Prader- mental retardation,
Willi decreased muscle
Syndrom tone, and life-
e threatening obesity.
When this genetic
mutation is inherited
from the mother,
Angelman Syndrome
arises which causes call=bv.View..ShowSection&rid=gnd.section.165
neurological problems
including jerky
movements and
spontaneous laughter.

Celiac A disease that

Disease triggers an
(Celiac autoimmune
response that causes
Sprue) damage to the small
intestine when
certain types of
protein, called s/celiac
gluten, are eaten.

Cri du Cri du chat syndrome
is a group of
chat symptoms that result
Syndrom from missing a piece
of chromosome
e (Cat’s
Cry number 5. The pe/criduchat.cfm
syndrome’s name is
Syndrom based on the infant’s
e, cry, which is high
pitched and sounds
Monosom like a cat.
y 5p)

Cystic A recessive genetic

Fibrosis disease in which the
exocrine glands of
afflicted individuals
produce abnormally call=bv.View..ShowSection&rid=gnd.section.242
thick mucus that
block the intestines
and lung
passageways. People 107.htm
with the disease have
a very hard time
breathing and often
die from suffocation.

Diabetes, Diabetes is a chronic
type 1 metabolic disorder
(Juvenile that adversely affects
the body's ability to x.htm
Diabetes) manufacture and use
and Type insulin, a hormone
2 necessary for the
conversion of food
into energy.

Down Down syndrome is a
Syndrom abnormality, usually
e due to an extra copy
of the 21st
(Trisomy chromosome. This
21) syndrome usually,
although not always,
results in mental
retardation and other id=190685

Duchenne The muscular
dystrophies are a
& Becker group of genetic
Muscular diseases characterized
by progressive
Dystroph weakness and
y degeneration of the
skeletal muscles that
control movement.

Fragile X Fragile X is a
Syndrom condition caused by a
e mutation on the X
chromosome. It can
cause learning
disabilities, or severe
including autism. 668.htm

Hemophil Hemophilia is a rare
inherited bleeding
ia A or B disorder that causes
blood problems in
blood clotting.

Huntingt A hereditary,
degenerative brain
on disorder for which
Disease there is no effective
treatment or cure. HD
slowly diminishes the
affected individual's
ability to walk, think,
talk and reason.

Klinefelte In addition to
occasional breast
r enlargement, lack of
Syndrom facial and body hair, r.htm
and a rounded body
e (XXY type, XXY males are
Syndrom more likely than other
e) males to be
overweight, and tend ome.html
to be taller than their
fathers and brothers.
Maple Maple Syrup Urine
Disease is an inherited rid=gnd.section.253
Syrup disorder so named
Urine because one of its first
signs is urine that has purinedesease.html
Disease an odor reminiscent of
maple syrup.
Obesity Obesity is an excess of
body fat that rid=gnd.section.232
frequently results in a
significant impairment
of health. ty.htm
Parkinson Parkinson's disease is
a motor system se/parkinsons_disease
’s disorder which is the
Disease result of the loss of
brain cells. Parkinson’s
can cause tremors, c=9dJFJLPwB&b=71117
rigidity, slowness of
movement and
postural instability.

Phenylket Phenylketonuria is a
hereditary disorder in
onuria which the amino acid
(PKU) phenylalanine isn't
properly metabolized.
As a result, the amino
acid can build up to
dangerous levels in
the blood and other
tissues, causing
mental retardation
and other serious
health problems.
Polycysti Polycystic kidney
disease is a genetic
c Kidney disorder characterized
by the growth of
Disease numerous cysts in the
kidneys. The cysts can
reduce kidney function
and lead to kidney c
Sickle Sickle cell anemia is
an inherited disorder
Cell that affects
Anemia hemoglobin, a protein
that enables red blood
(Sickle cells to carry oxygen
Cell to all parts of the
Disease) body, resulting in a ml
low number of red
blood cells and
periodic pain.

Tay-Sachs A rare inherited

Disease disorder that causes
destruction of nerve
cells in the brain and 27.asp
spinal cord, found to
be more common in pageID=10001220
people of Ashkenazi
Jewish heritage than
in those with other

Triple-X A rare chromosomal
genetic syndrome with
Syndrom one or more extra X
e chromosomes, leading retryCount=2&id=AN00351
to XXX (or more rarely
(Trisomy XXXX or XXXXX),
X) instead of the usual
XX. These people are
females and can be
unaffected, or may
suffer from problems
such as infertility and
reduced mental acuity. intro

Turner’s Turner syndrome is a
Syndrom condition that
e exclusively affects
girls. It occurs when
one of the two X
normally found in
females is missing or

XYY A condition in which
males have two Y
chromosomes; side
e effects include being

more physically active
and having a asp
tendency to delayed
mental maturation.

Name: ________________________ Disorder: _______________

Genetics Disorder Grading Rubric
Presentation Requirements Earne Possibl Comments
d e
Points Points
Slide 1:Introduction 5
 Name the disorder
 Introduce team members
Slide 2: Definition of the disorder 5
 What happens to the body?
 What part of the body does
it generally affect?
Slide 3: Description of the 10
 List all of the possible
effects on the body
Slide 4:Cause of the disorder 20
 What happens in the body to
cause the disease?
 Is it a mutation? A genetic
tendency triggered by other
Slide 5:How the disorder is 20
 Is it sex-linked?
 Is there a particular
chromosome it is located
 Is it recessive or dominant?
Slide 6: How the disorder is 10
 Medications? Gene therapy?
Slide 7:How the disorder is 10
 What tests are done? Is
genetic counseling an
Slide 8:How many and what type 10
of people are likely to have the
 Is it more common in a
certain group of people?
 How common is it?
Slide 9:Conclusion Paragraph 10
 Follow conclusion paragraph

Total Points Earned 100