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Jacobsen Syndrome

Genetic Disorder Project

Sammy Nagy

on 14 December 2012

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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.
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