January 14, 2016
Chromosomal Mutation Report
Markus H
History: Patau Syndrome was first observed by Thomas Bartholin in 1657 but the chromosomal nature
was first noticed by Klaus Patau in 1960, as it is named in his honour. It is also known as Trisomy 13.
Etiology: This syndrome exists only to due an accident while one of the sperm or egg cells were being
created and we’re accidentally given an extra Chromosome 13. The odds are completely random. There
are 2 kinds of Patau syndrome; one happens in Mitosis(mosaic form) and the other in Meiosis(regular
Patau Syndrome)
Symptoms: There are many symptoms to Patau’s syndrome but this most common are eye defects, and
problems with almost every major organ, especially the heart. Patients are likely to have cleft palates
and cleft lips.
Diagnosis: The best way is to take a little bit of blood and test it for its chromosomes. The doctors also
use ultrasound to see If the baby has any of the symptoms of Patau’s syndrome but usually the
ultrasound isn’t the most accurate and should not be too heavily relied on compard to
Treatment: It varies from patient to patient as there are many drastically different symptoms of Patau
Syndrome. The majority of children require surgery due to complex heart problems or cleft lip/palate.
Some don’t even survive due to severe neurological problems.
Prognosis: Approximately 80% of children do not survive within their first year. About 50% of children
with Patau’s die within a week
Chromosomes of a
person with Patau’s
Notice the
chromosome triplet of
13
 Notice the deformed hands.
This is a common symptom
Sources:
https://en.wikipedia.org/wiki/Patau_syndrome
http://patient.info/doctor/pataus-syndrome-trisomy-13
http://www.aboutkidshealth.ca/EN/HEALTHAZ/CONDITIONSANDDISEASES/GENETICDISORDERS/Pages/t
risomy-13-patau-syndrome.aspx
http://www.glogster.com/steviecoleman/patau-s-syndrome/g-6ltef21cii9t3u2t8n2qja0
http://syndromepictures.com/wp-content/uploads/2011/10/Patau-syndrome-fingers.jpg