Loading presentation...

Present Remotely

Send the link below via email or IM


Present to your audience

Start remote presentation

  • Invited audience members will follow you as you navigate and present
  • People invited to a presentation do not need a Prezi account
  • This link expires 10 minutes after you close the presentation
  • A maximum of 30 users can follow your presentation
  • Learn more about this feature in our knowledge base article

Do you really want to delete this prezi?

Neither you, nor the coeditors you shared it with will be able to recover it again.


Jacobsen Syndrome

Genetic Disorder Project

Sammy Nagy

on 14 December 2012

Comments (0)

Please log in to add your comment.

Report abuse

Transcript of Jacobsen Syndrome

Jacobsen Syndrome and Sammy present A presentation on History - There have been 200 recorded cases of
Jacobsen syndrome
- Jacobsen syndrome was discovered by Dr. P.
Jacobsen in 1973
- She observed many of her family members who had the condition and became curious about what it was and researched in depth into it.
- Although several scientists are researching the disease currently, there have been no major breakthroughs on the subject Information - Jacobsens syndrome is usally observed when the patent has cases of mental retardation, facial dysmorohic features (mutations on the face) and thrombocytopenia (an illness having to do with blood cells.
- It is possible yet extremely uncommon for it to be passed on. In a 1 in 100,000 chance the long arm of chromosome 11 is deleted.
- It is sex-linked and it is a mutation that has multiple genes associated (described in next slide) Symptoms - Physical conditions of this disease include skull deformation, facial deformation, short nose, small ears, webbed neck, stubby feet, and a bleeding disorder called Paris Trousseau syndrome.
- Mental conditions of this disease include mental retardation as well as issues with normal behavior. Prognosis - At an early age, over 20% of the patients of the early age die due to organ and system failure.
- After infancy, the diagnosed that survive have an unknown life expectancy. Even then the patients survive, they still have to live a long life with deformities caused by Jacobsen syndrome.
- the female/male ratio is 2:1 Treatment Options -There is no known cure for the condition that effectively eliminates it.
-However there are cures for the individual disorders including surgery for physical deformities.
-Special help is also available for mental issues such as retardation. Bibliography: 1.) http://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=518&Disease_Disease_Search_diseaseGroup=Jacobsen-syndrome&Disease_Disease_Search_diseaseType=Pat&Disease(s)/group%20of%20diseases=Jacobsen-syndrome&title=Jacobsen-syndrome&search=Disease_Search_Simple
2.) http://www.biomedcentral.com/content/pdf/1750-1172-4-9.pdfghr.nlm.nih.gov/conditions/Jacobsen-Syndrome
3.) home.earthlink.net/~heinabilene/karyotypes/del11q.htm
4.) ghr.nlm.nih.gov/conditions/Jacobsen-syndrome
5.) www.healthline.com/galecontent/jacobsen-syndrome1
6.) www.ojrd.com/content/4/1/9
7.) http://ghr.nlm.nih.gov/chromosome/11
8.) http://www.rarechromo.org/information/Chromosome%2011/11q%20deletion%20disorder%20Jacobsen%20syndrome%20FTNW.pdf
9.) http://books.google.com/books?id=H5TSvoocEgUC&pg=PA163&lpg=PA163&dq=is+jacobsen+syndrome+recessive+or+dominant&source=bl&ots=MHAep1bnQA&sig=0sAO7WFYfJsLyhT_SUWrDN85Sbs&hl=en&sa=X&ei=o6PKUKf0BsWkiQLXwoHIBg&ved=0CDAQ6AEwADgK#v=onepage&q=is%20jacobsen%20syndrome%20recessive%20or%20dominant&f=false Genetics - The deleted long arm (q) of chromosome 11 can contain 170 to 340 genes
- Usally the break in chromasome 11 happens in the bands called 11q23 or 11q24
- Even though Jacobsen syndrome is sex-linked, it is also DE NOVO, meaning that if one child in the family has it is super unlikely anyone else in the family will get it.
- One of the major genes that have to do with the mental abilities deleted is BSX-1 (Brain-Specific Homeobox Protein), which is a gene that is involved in the development of the brain.
- Jacobsen syndrome is a dominant trait.
Full transcript