Trisomy 13 (Patau's sydrome)
By: Chloe Fleck
Overview
- This is a syndrome that gives you mental and physical deformities, and occurs when there is an extra chromosome 13.
- Another explanation for this disorder is, the 13th extra chromosome becomes attached to another chromosome (very rarely).
Inheritance
- The risk of a child getting this disorder, is increased if their mother is over 30 years of age.
- Mutations in the mothers eggs or father sperm happen after they are combined. Also the egg and sperm can produce more than 46 chromosomes, which explains the child's extra thirteenth chromosome.
Research
- Doctors will help with children that have a structural disorder, but a cure has not been researched.
- Some deformities can be handled with surgery, some cannot due to being too severe.
Signs and symptoms
- Eyes can be close together, conjoined or not be present. The head may be signiflicantly smaller as well as eyes.
- When this syndrome is present, the kid can be deaf or have a cleft lip/palate. They can also have some sight/smell issues as well as severe facial deformities.
- With this syndrome, the affects cause you to live from the age of one month to the age of a year.
- Due to the fore brain not splitting into lobes/hemispheres the head is smaller than usual. The spinal cord also faces problems, such as it sticking out from a vertebrae opening. Including a significant amount of other symptoms.
Tests and treatments
- Most often, this is detected from ultrasounds while a woman is pregnant or other tests. Unfortunately there is no cure for this disease, but it can also be determined by looking at the "chromosomal pattern."
- A way to find a deformity is x-rays or ultrasounds, which will show if there is anything wrong with the childs organs, such as rotation of the organs.
- To help the child eat with this syndrome, a feeding tube may be useful.
- To prevent parents from having a child with this syndrome, genetic testing and counseling could possibly help them.
Sources
Fundukian, Laurie J. "Trisomy 13." The Gale Encyclopedia of Genetic Disorders.
2010. Gale Virtual Reference Library. Web. 4 Apr. 2016.
2010. Gale Virtual Reference Library. Web. 4 Apr. 2016.
"Patau's Syndrome." World of Health. 2007. Student Resources in Context. Web. 5
Apr. 2016.
Haldeman-Englert, Chad. "Trisomy 13." Medline PLus. A.D.A.M., Inc., 2013. Web. 5
Apr. 2016. <https://www.nlm.nih.gov/medlineplus/ency/article/
001660.htm>.