Jacobsen syndrome

By: Travis Bailey

What is Jacobsen syndrome?

This disorder is caused by genetic materials missing in chromosome 11. Because the deletion occurs at the end (terminus) of the long (q) arm of chromosome 11, this disorder is also known as 11q terminal deletion disorder.

Treatment

Surgery can be treated for malformations, including gastrointestinal corrections. Major cardiac defects can require heart surgery in infants.Blood or platelet problems should be monitored frequently.

Facts about this disorder

The chromosome that is affected is chromosome 11. The prenatal test for this disorder are through amniocentesis after an ultrasound demonstrated one or more fetal abnormalities.The picture below shows a photo of chromosome 11 after deletion.
Big image

Symptoms this disorder

The symptoms for this disorder are:


  • hypotonia, or weak muscle tone
  • delayed motor skilled development, such as walking or crawling
  • delayed or difficult speech
  • not easy excitable (is normally quiet or calm)
  • undescended testicles at birth

Jacobsen syndrome now

Jacobsen syndrome has no cure yet, and there is no therapy to fill in the missing pieces of chromosome 11, I hope that people in the future will find a cure to help them.

Resources

www.healthline.com

www.nlm.hih.gov/condition/jacobsen-syndrome

The gale encyclopedia of genetic disorder