BY: VIVEK PATEL And FERNANDO CRUZ Patau Syndrome BY: VIVEK PATEL And FERNANDO CRUZ www.ppttopics.com

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 www.ppttopics.com

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 www.ppttopics.com

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 www.ppttopics.com

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 www.ppttopics.com

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 www.ppttopics.com

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 www.ppttopics.com

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 www.ppttopics.com

Bibliography www.ppttopics.com