Genetic Disorders

This is a magnified Tay Sachs disease cell

Tay Sachs: Causes a progressive deterioration of nerve cells and physical and mental          abilities.

Avg. age of diagnosis: 6 months

Test used to detect: visual

located on chromosome: 15

It is autosomal

Hemophilia: When your blood doesn't clot.

Avg. age of diagnosis: less than 2 years of age

Test used to detect: Screening test

Located on the X chromosome

It is sex-linked

Symptoms: nose bleeds, bruising, blood in urine

PKU: is a deficiency of phenylalanine hydroxylase

Avg. age of diagnosis: when born

Test used to detect: blood testing

Located on chromosome 12

It is autosomal

Symptoms: intellectual disability, seizures, and other serious medical problems

Sickle Cell is when red blood cells are shaped like crescents or sickles instead of discs

Avg. age of diagnosis: only a couple of weeks after becoming pregnant.

Test used to detect: Blood test

Located on chromosome 11p

It is autosomal

Symptoms: infections, delayed growth and anemia

MUSCULAR DYSTROPHY

It is when you begin to loose muscle tissue and become weaker over time

Avg. age of diagnosis: 1 to 6 years

Test used to detect: Enzyme Test

Located on the X chromosome

Both autosomal and sex linked

Symptoms: loss of muscle, weakening., loss of reflexes, and hard doing many things

Colorblindedness

It is the inability to see certain colors

Avg. age of diagnosis: 4 years old

Test used to detect: Anomaloscope

It is located on the X chromosome

It is sex linked

Symptoms: unable to see certain colors

Parkinsons

Is when you have a disorder in the brain and makes you shake in different parts of the body

Avg. age of diagnosis: 60 years old

Test used to detect: Blood test

Is located on chromosome 4 and 6

Its both autosomal and sex linked

Symptoms: shaking in hands & feet, slow movement

Is when cells is the brain waste away

Avg. age of diagnosis: 30-50 years old

Test used to detect: CAG

Is located on chromosome 4

It is autosomal

Symptoms: behavior changes, seizures and tremors and loss in smartness

Is when a person is short in stature

Avg. age of diagnosis: 2-3 years old

Test used to detect: a doctor would measure you in different parts of body

Is located on chromosome 4

It is autosomal

Symptoms: abnormally short

Is when a person has 1 to many chromosomes

Avg. age of diagnosis: when born

Test used to detect: screening test

Is located on chromosome 21

It is autosomal

Symptoms: delay in development

Is when sticky mucus goes into their lungs

Avg. age of diagnosis: .5-2 years old

Test used to detect: screening and sweat test

Is located on chromosome 7q

It is autosomal

Symptoms: coughing, wheezing, shortness in breath

WORK CITED

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