Patau's+syndrome

= Discovery and Characteristics = Patau's syndrome, also called Trisomy 13, was first observed by Thomas Bartholin, but the chromosomal aspects of the disorder were made certain by Dr. Klaus Patau in 1960 in America, even though Patau was a German born scientist. Patau was credited with the discovery of the disorder, which is why it is named after him, but Bartholin first observed it. Characteristics of Patau's syndrome include heart defects, brain or spinal cord abnormalities, extra fingers or toes, very small or poorly developed eyes, an opening in the lip, an opening in the roof of the mouth, and weak muscle tone. Surgeries can be performed for treatment to fix heart defects or the clefts in the lip or mouth, but do not live very long. Tragically, more than 80% of babies with Patau syndrome will not make it a full year alive. Many die in their first few days or weeks. The life expectancy for children with this disorder is just 12.5 days. = Inheritance pattern and Environmental Factors  = The inheritance pattern for Patau syndrome is actually sex linked. Cases of the disorder are mostly random events and are sex linked because random events will take place during the formation of the gametes. There are also no known environmental factors that might affect the symptoms of this disorder. However, it is most likely difficult to see or breathe with the defects in the eyes and mouth. Also the heart defects make it difficult for the baby to pump blood throughout the body and remain healthy for long. The brain and spinal cord damages also contribute to the baby having a difficult time living. This is why most babies do not make it past their first year.

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= Frequency and Tests = Patau's syndrome is not very common. In fact, the disorder occurs in about 1 in 16,000 newborn babies. The risk of having a child with the disorder increases as the woman gets older, and occurs more commonly in females than in males. This is only because most male fetuses do not survive until birth. There are a few clinical tests to determine the diagnosis of this disorder but the most common one is karyotyping. This is when a diagram of all the chromosomes is created and it is diagnosed if there is a third chromosome on chromosome number 13, unlike the normal amount of chromosomes, which is 2.



= Cause =

Patau syndrome is caused by having three sets of chromosomes on chromosome number 13, when there are only supposed to be 2 chromosomes. This is the result of a chromosomal mutation called nondisjunction, which is an error in cell division. An egg or a sperm cell may gain an extra copy of chromosome 13 and the result from that is the baby being diagnosed with Patau's syndrome. Each body cell will have that extra copy and that is why it can not be prevented.



= Works Cited = https://ghr.nlm.nih.gov/condition/trisomy-13#inheritance

https://www.verywell.com/patau-syndrome-trisomy-13-2860981

https://emedicine.medscape.com/article/947706-overview

P|https://www.webmd.com/children/trisomy-13#1