Mandy

Mutation on Chromosome 14


Proteus Syndrome

What is Proteus Syndrome?

Proteus syndrome is a disorder where cells are not able to regulate their own growth, leading some
parts of the patients body to grow to abnormal and even enormous sizes, while other parts of the
body remain normal. The irregular overgrowth worsens with age and increases the susceptibility to
tumors.


Cause

It is caused by a mutation on Chromosome 14 by a single-letter misspelling in the DNA of the genetic
code in the AKT1. This gene activates the sporadic tissue growth characteristic of Proteus syndrome.
Only 100 to 200 cases of Proteus syndrome have been reported around the world. Both males and
females are equally likely to be affected with Proteus syndrome.



Health Issues

Proteus syndrome is a progressive condition wherein children are usually born without any obvious
deformities. Tumors and skin and bone growths appear as they age. There is a risk of premature
death in affected individuals due to malformations that are associated with this disorder. Because of
carrying excess weight and enlarged limbs, arthritis and muscle pain may also be symptoms. Risks
may occur due to the mass of extra tissue Joseph Merrick, the most famous sufferer of Proteus
syndrome, himself died when the weight of his head dislocated his neck while he was sleeping.



Physical Appearance

Enlarged body parts
Large tumor looking pieces on skull, legs, feet












































Chloe
Mutation on Chromosome 11


Albinism

What is Albinism?

Albinism is an inherited condition that is present at birth. It is characterized by a lack of melanin, the
pigment that normally gives color to the skin, hair, and eyes. Many types of albinism exist, all of
which involve lack of pigment in varying degrees. The condition, which is found in all races, may be
accompanied by eye problems and may ultimately lead to skin cancer .


Cause

OCAlbinism type 1 is caused by a gene on chromosome 11 and is inherited as an autosomal recessive
trait, meaning the individual must inherit two defective genes for the disorder to occur. Albinism
affects both males and females, and is apparent from birth. Research indicates that OCA type 1
occurs in 1 individual per 40,000 in a population.

Health Issues

There is no treatment or cure for albinism. Since individuals with albinism have little or no melanin in
their skin, they need to use a broad-spectrum sunscreen and wear adequate clothing when outside to
prevent ultraviolet (sun) damage to the skin. The use of sunglasses will reduce the symptoms of light
sensitivity as well as protecting the eyes. An ophthalmologist can treat other eye or vision symptoms.
Individuals with albinism should see a dermatologist regularly to be screened for skin cancer.
Albinism does not alter life expectancy or have other serious health effects.


Physical Appearance
White or extremely pale skin
Blonde/ white hair
Blonde/white eyelashes and eyebrows
Red eyes






































Hayley
Mutation on Chromosome 1

Progeria

What is Progeria?

Progeria is a progressive genetic disorder that causes children to age rapidly, beginning in their first
two years of life. Children with progeria, also known as Hutchinson-Gilford progeria syndrome
(HGPS), generally appear normal at birth. By 12 months, signs and symptoms, such as slow growth
and hair loss, begin to appear. The average life expectancy for a child with progeria is about 13, but
some with the disease die younger and some live 20 years or longer.

Cause
Progeria is caused by a mutation in the LMNA gene on chromosome 1. This mutation changes a
single DNA building block (nucleotide) in the gene. Specifically, the mutation replaces the nucleotide
cytosine with the nucleotide thymine.
When the altered protein is incorporated, it can disrupt the shape of the nuclear envelope. Over time,
a buildup of this altered protein appears to damage the structure and function of the nucleus, making
cells more likely to die prematurely.

Health Issues
Usually within the first year of life, growth of a child with progeria slows markedly so that height and
weight fall below average for his or her age. Motor development and intelligence remain normal.
Heart problems or strokes are the eventual cause of death in most children with progeria. There's no
cure for this condition, but ongoing research shows some promise for treatment.

Physical Appearance
Slowed growth, with below-average height and weight
A narrowed face and beaked nose
Hair loss (alopecia), including eyelashes and eyebrows
Hardening and tightening of skin on trunk and extremities (scleroderma)
Head disproportionately large for face
Thin lips and Prominent eyes
Visible veins
Diminished body fat and muscle






















Robert
XXY Abnormality


Klinefelters Syndrome

What is Klinefelters syndrome?
Klinefelter syndrome, also known as the XXY condition, is a term used to describe males who have an
extra X chromosome in most of their cells. Instead of having the usual XY chromosome pattern that
most males have, these men have an XXY pattern.
Because not every male with an XXY pattern has all the symptoms of Klinefelter syndrome, it is
common to use the term XXY male to describe these men, or XXY condition to describe the
symptoms.
Cause
Scientists believe the XXY condition is one of the most common chromosome abnormalities in
humans. About one of every 500 males has an extra X chromosome, but many dont have any
symptoms.

Health Issues
As babies, many XXY males have weak muscles and reduced strength. They may sit up, crawl, and
walk later than other infants. After about age four, XXY males tend to be taller and may have less
muscle control and coordination than other boys their age. XXY males can have normal sex lives, but
they usually make little or no sperm. Between 95 percent and 99 percent of XXY males are infertile
because their bodies dont make a lot of sperm.
By adulthood, XXY males look similar to males without the condition, although they are often
taller. They are also more likely than other men to have certain health problems, such as
autoimmune disorders, breast cancer, vein diseases, osteoporosis, and tooth decay.


Physical Appearance
As XXY males enter puberty, they often dont make as much testosterone as other boys. This can
lead to a taller, less muscular body, less facial and body hair, and broader hips than other boys. As
teens, XXY males may have larger breasts, weaker bones, and a lower energy level than other boys.




















Becky
Trisomy 21
Down Syndrome
What is Down Syndrome?
Down syndrome is a genetic condition that causes delays in physical and intellectual development. It
occurs in one in every 691 live births. Individuals with Down syndrome have 47 chromosomes instead
of the usual 46. It is the most frequently occurring chromosomal disorder. The most important fact to
know about individuals with Down syndrome is that they are more like others than they are different.
Cause
Down syndrome is usually caused by an error in cell division called nondisjunction. It is not known
why this occurs. It has been known for some time that the incidence of Down syndrome increases
with advancing maternal age. However, 80% of children with Down syndrome are born to women
under 35 years of age.
Health Issues
Many children with Down syndrome have health complications beyond the usual childhood illnesses.
Approximately 40% of the children have congenital heart defects. Some of the heart conditions
require surgery while others only require careful monitoring. Children with Down syndrome have a
higher incidence of infection, respiratory, vision and hearing problems as well as thyroid and other
medical conditions. However, with appropriate medical care most children and adults with Down
syndrome can lead healthy lives. The average life expectancy of individuals with Down syndrome is
55 years, with many living into their sixties and seventies.
Physical Appearance
Flattened back of head.
Attractive Almond-shaped eyes, with one eye lid a little droopy.
Slightly flattened bridge across nose.
Smallish ears, positioned slightly lower on the head, with a small fold at the top of the ear.
Smallish mouth.
Slightly protruding tongue.
































Aaron
Trisomy 22
Emanuel Syndrome
What is Emanuel Syndrome?
Emanuel syndrome is a chromosomal disorder that disrupts normal development and affects many
parts of the body. Infants with Emanuel syndrome have weak muscle tone (hypotonia) and fail to
gain weight and grow at the expected rate (failure to thrive). Their development is significantly
delayed, and most affected individuals have severe to profound intellectual disability.
Cause
Emanuel syndrome is caused by the presence of extra genetic material from chromosome 11 and
chromosome 22 in each cell. In addition to the usual 46 chromosomes, people with Emanuel
syndrome have an extra (supernumerary) chromosome consisting of a piece of chromosome 11
attached to a piece of chromosome 22. The extra chromosome is known as a derivative 22 or der(22)
chromosome.
Health Issues
The floppiness seen in babies with Emanuel syndrome tends to persist but slowly most
children gain some control over their muscles. Motor development - the ability to learn
how to sit, crawl and walk - is very delayed in most children. Over 70 per cent do learn
to walk eventually, but this takes persistence and lots of support. The average age to learn how to
walk is five years. Most children with Emanuel syndrome who walk need the support of another
person or a walker, but some can walk without support.
Most children with Emanuel syndrome dont learn to talk, although there are certainly
exceptions. About 77 per cent are non-verbal, but a few can say single words or learn
simple sign language.
Physical Appearance
Features of Emanuel syndrome include:
an unusually small head (microcephaly)
distinctive facial features
a small lower jaw
Ear abnormalities
About half of all affected infants are born with an opening in the roof of the mouth (cleft palate) or a high arched
palate. Males with Emanuel syndrome often have genital abnormalities. Additional signs of this condition can
include heart defects and absent or unusually small (hypoplastic) kidneys; these problems can be life-threatening
in infancy or childhood.






















































Ethan
Trisomy 13
Patau Syndrome
What is Patau Syndrome?

Patau Syndrome is a genetic condition that causes severe physical development abnormalities. Patau
syndrome occurs in approximately one in 10,000 live births. In many cases, spontaneous abortion
(miscarriage) occurs, which means the fetus does not survive to term. Male and female children are
equally affected, and the syndrome occurs in all races.


Cause

Patau syndrome, also called trisomy 13, is a congenital (present at birth) disorder associated with the
presence of an extra copy of chromosome 13. The extra chromosome 13 causes numerous physical
and mental abnormalities.


Health Issues

Approximately 45 percent of trisomy 13 babies die within their first month of life; up to 70 percent in
the first six months; and over 70 percent by one year of age. Survival to adulthood is very rare. Only
one adult is known to have survived to age 33.

Commonly in children with Patau syndrome the fore-brain fails to divide into lobes or hemispheres
and the entire head is unusually small. Eyes may not develop or sometimes there is only one eye
present. The spinal cord may protrude through a defect in the vertebrae of the spinal column.
Children who survive infancy have profound mental retardation and may experience seizures.


Physical Appearance
cleft palate
sloping forehead,
a smaller than average head (microcephaly)
small or missing eyes
extra fingers and toes ( polydactyly )
abnormal genitalia




















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