1. BY: VIVEK PATEL And FERNANDO CRUZ
Patau Syndrome
BY:
VIVEK PATEL
And
FERNANDO CRUZ

2. General Is also known as Trisomy 13
Newborns have many physical abnormalities in many part of their body.
Happens when a person has 3 copies of genetic material of chromosome 13

3. Symptoms Close set eyes/ Cyclops eye Extra fingers or toes
No muscle tone
Low set ears
Small eyes
Seizures
Mental retardation
Heart defects
Brain or spinal cord abnormalities

4. History Named in honor of Dr. Klaus Patau
He recognized the condition as chromosomal based in 1960
One reason of its discovery is that there was an atomic bomb testing in the pacific islands
The bombing caused the island tribes to develop this random mutation and made it more common in the world

5. Survivability and Frequency
Many infants die in the first few days or weeks
Only 80% of infants die in one month
Only 5-10% make it past 1 year
Occurs in 1 in 16,000 babies

6. How to inherit trisomy 13
An unaffected person can carry a rearrangement of genetic material between chromosome 13 and another chromosome.
The rearrangements are called translocations because there is no extra material from chromosome 13

7. Diagnostics
Can be diagnosed by looking at cells taken from the fetal blood
Chromosomal abnormalities are visible under a microscope
Many symptoms appear at birth
MRI or CT scan is used to fiend abnormalities in the brain

8. Treatments and Therapies
The only treatment available for this disease is therapy to correct all the physical defects
Patient must survive to 18 to have surgery performed on them

9. Bibliography