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Jacobsen Syndrome
1
Transcript
Causes
Symptoms and signs
- This disease is caused by a genetic mutation.
- Part of chromosome 11 is deleted during fertilization.
- The mutation is not related to X and Y chromosomes, so the offspring is not affected.
- Sometime the cells with deleted chromosomes mix with cells with normal chromosomes, so the disorder is not as bad
Appearance
- They can be short.
- They have low, small ears.
- Their forehead is pointed.
- Their eyes are far apart and droopy
- The people with this disease may have Paris-Trousseau syndrome.
- Their blood doesn't clot well.
- If they get hurt, they would just keep bleeding.
- Their hearts may not develop correctly.
- Because of the location of their eyes, they may have trouble seeing
Bodily Issues
Developmental
- They develop slower than most kids.
- Their motor skills are slower.
- Their speech is also slower
- The kids also may have ADHD, or Attention Deficit Hyperactivity Disorder.
Discovery
Jacobsen Syndrome
- This genetic disease was discovered in 1973 by Dr. Petrea Jacobsen in Denmark.
- She was working at a mental institute when she began to wonder if some of the patients had genetic diseases.
- She did genetic tests to discover that something was wrong with their #11 chromosome.
- The disease was named in her honor.
Diagnosis
- If the person has the symptoms, they should be taken to see a doctor.
- To make sure that the person has the syndrome a blood test has to be done.
- The chromosomes are magnified, and the chromosome 11 is checked.
- If something is wrong with the chromosome, they will be diagnosed.
Treatment
- The actual syndrome cannot be corrected.
- But there are ways to relieve the symptoms:
- Surgery
- Surgery on eyes to help them see better.
- There can be surgeries to help fix the heart defects.
- Medicine
- There is medicine to help treat the bleeding disorder.
- Therapy
- There is physical therapy to help with physical problems.
- There is speech/social/mental therapy for developmental issues.
Video
Sources
- http://www.rarechromo.org/information/Chromosome%2011/11q%20deletion%20disorder%20Jacobsen%20syndrome%20FTNW.pdf
- http://home.earthlink.net/~heinabilene/karyotypes/del11q.ht
- http://www.ojrd.com/content/4/1/9
- http://ghr.nlm.nih.gov/condition/jacobsen-syndrome
- http://11q.chromosome11.eu/index.php?option=com_content&view=article&id=2&Itemid=55&lang=en
- http://www.cafamily.org.uk/medical-information/conditions/j/jacobsen-syndrome/?f=J
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