Genetic Disorder- Trisomy 13 Patau Syndrome

Themistoklis Daniilidis

Mr. Youell

10/12/2014

Science 9A



                                            Genetic Disorder- Trisomy 13 Patau Syndrome


  While searching the news about this not well-known genetic disorder called Patau Syndrome I found a really interesting and usual story published by Daily Mail about a young English couple with a recently born baby. This little girl, named Jess has the Patau Syndrome and the effects really make her life difficult. Patau Syndrome takes place when there is one more chromosome in the 13th pair of chromosomes in the structure of DNA of an unborn human. This syndrome leads into many different problems, both mental and physical. Underneath, you can see a picture of some symptoms that can occur because of the Patau Syndrome.

Here are some examples of the symptoms that can occur due to this Syndrome. 

According to  the National Genetics and Genomics Education Centre  a person who has Patau Syndrome might have many different types of mental retardation or/ and physically he/ she will be strangely develop. Many patients have more than five fingers and toes, low set ears, cleft chin or/ and palate, abnormal testes and have no eyebrows. It is really important to mention that most babies die during pregnancy and 50% of people with Patau Syndrome die within one month of life. Also, only about 10% of patients live more than a year and have terrible disabilities. Long survival is usually because of mosaicism. Mosaicism is a condition where the third chromosome is not present in all the cells but in only some of them. The possibility of having for an unborn baby to have a trisomy disorder in the 13th pair of chromosomes isn't great, about 1 out of 9,500 babies are born with it and of course the possibility rises when the maternal age is increasing. Underneath, there is a Karyotype picture showing the third chromosome in the 13th pair.

On this picture you can recognize a third chromosome on the 13th pair. This is what causes the Patau Syndrome and it is called genetic disorder.

Little Jess has a really unusual type of mental retardation because of the syndrome which sometimes maker forget to breath and her skin starts becoming blue. This means that she always needs to be with someone who knows how to keep her in life by giving her the kiss of life, every time she forgets to breath. Jess has now more than a year in life and her parents celebrated her first birthday as a really special event. Underneath, you can see a picture of little Jess enjoying some time with her mother.   
     
On this picture you can see Jess enjoying nature and having fun with her mother.

From my perspective, this story was all about real love. Even though, the parents could simply decide to have an abortion and continue living an "easy" life but they decided that they won't give up and try their best to keep their little daughter in life as long as possible against all odds and they have successfully completed their goal. Let's all wish this great family good luck!


Sources:Innes, Emma. "Parents Have to Resuscitate Their Baby up to FIVE times a Day Because Rare Condition Means She Forgets to Breathe and Turns Blue." Mail Online. Associated Newspapers, 16 Oct. 2013. Web. 12 Oct. 2014. 
"Patau Syndrome*." Patau Syndrome*. N.p., n.d. Web. 11 Oct. 2014.