Patau Syndrome, Trisomy 13

Lana Jovsic

10/10/2014

Patau Syndrome.

October 16 2012 was the birth of what everyone hoped would be a healthy baby girl unfortunately that was not the case.  Jessica Kerr has the rare genetic disorder called Patau syndrome also known as trisomy 13. Because of her condition her parents have to save her life up to five times a day because she stops breathing. Along with sever breathing difficulties she also has a cleft palate, and a very bad immune system which makes her prone to getting infections and is very difficult for her body to fight of. As you can see on Figure 1 Jessica Kerr is fed through a nasal tube because of the sever cleft palate she has on the inner side of her mouth. During her pregnancy Mel Kerr was told that her child might have some minor disabilities but was encouraged by her doctors to carry on with the pregnancy because there is a good chance the child will be healthy, which was not the case.  Two days after Jessica was born the doctors diagnosed her with Patau syndrome and she was not expected to live longer than a week but Jessica beat the odds and continued to amaze the doctors. “I was crushed. Children with the syndrome often do not survive very long but Jess got to four weeks, then to Christmas, then to three months and now we have got to her first birthday.” Said Mel Kerr while doing an interview for Leicester Mercury  on her daughters first birthday. Since Patau syndrome is considered one of the most severe chromosomal abnormalities, there are many support groups to help the families with a child who has trisomy thirteen such as SOFT UK.

 

Figure 1: This is a picture of Jessica Kerr, who suffers from the rare genetic disorder Patau Syndrome and has to be fed through a nasal tube.

 The Patau syndrome was discovered and later named after Dr. Klaus Patau in 1960. Having three copies of chromosome 13 instead of the usual two copies in each of the body cells causes the syndrome. Figure 2 shows a karyotype of a person who would have Patau Syndrome because of the third chromosome 13. Trisomy 13 can also appear when a part of chromosome 13 attaches to another chromosome in the process of formation of the egg and sperm (or very early in the development of the fetus). Mosaic trisomy 13 occurs when people with trisomy 13 have an extra chromosome in only some of the cells. In this case what determines the severity of physical deformation of the person who has the disorder is the number of cells where there is the extra chromasome.  There are various symptoms of Patau syndrome they include: heart problems, brain and spinal abnormalities, poorly developed eyes, cleft palate, weak muscular structure, extra toes or fingers, sever mental retardation, kidney defects and other. 1 out of 16,000 newborns have Patau syndrome, the chance of your child having trisomy 13 increases, as the woman gets older.  According to About Health 95% of the babies with Patau syndrome are miscarried. Out of those 5% of that are delivered only 5-10% will to survive to their first birthday, there are barely any adults who have Patau syndrome.There are 21 reported people who have lived past the age of five; three of them have mosaic trisomy 13 and 18 have the standard trisomy 13 where the oldest person is 21. In most of the cases trisomy 13 is not inherited because it is a product of what happened during the formation of eggs and sperm. For example Mel Kerr gave birth to five healthy children prior to Jessica. The syndrome appears to mostly affect female children because most of the males are stillborn or miscarried, but the doctors aren’t sure of why that is. Actually 64% of the babies with Patau syndrome are miscarried/stillborn. There is no certain cure for this syndrome because there are many variations of the symptoms so the babies are treated according to the symptoms. 

Figure 2: This is a karyotype, which shows someone who has Patau syndrome also known as trisomy 13.

Despite the fact that this syndrome is not common there should be more awareness about what people can do in order to help, and just support the families whose children suffer from this disorder. Hopefully through intensive research there will be a cure for this disorder or at least a way to extend the life expectancy of babies affected.

Bibliography

News article

http://107.oakfm.co.uk/round-here/news/local-news/mum-thanks-loughborough-charity-for-helping-her-daughter-get-to-her-first-birthday/

http://www.leicestermercury.co.uk/Baby-forgets-breathe-today/story-19938527-detail/story.html

http://www.dailymail.co.uk/health/article-2462954/Patau-syndrome-Parents-resuscitate-baby-FIVE-times-day-forgets-breathe.html

General Information

http://www.patient.co.uk/doctor/pataus-syndrome-trisomy-13

http://ghr.nlm.nih.gov/condition/trisomy-13

http://www.disabled-world.com/disability/types/patau-syndrome.php

http://rarediseases.about.com/od/rarediseasesp/a/patau05.htm