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Created with Fabric.js 1.4.5 Jacobsen syndrome is a disorder caused by the deletion of partsof the 11q chromosome. It causes mental disabilities, craniofacial issues, and bleeding disorders. This disorder is autosomal because it has to do with the eleventh chromosome. The disorder is named after Petra Jacobsen who was a Danish physician who discovered it in 1973. -Short for their age and low ears-Bones in their skull are joined together so they have a pointed skull, called craniofacial-Hypertelorism, or wide-set eyes-Ptosis or drooping eyelids -Smaller, lower jaws -Motor skills like walking, standing, and sitting develop later.-Late speech -Learning disabilities and ADHD-Other potential medical conditions: heart defects, bone abnormalities, frequent sinus and ear infections, kidney problems, digestive system disorders, and genitalia abnormalities.-More than 90% of those with Jacobsen syndrome also have a bleeding disordercalled Paris-Trousseau syndrome, which is abnormal bleeding and bruisingcaused by abnormalities in blood platelets TreatmentOne could get restorative surgery to liftdroopy eyelids to be able to see better.Children will go through special education to help their learning and behavior. How do you get Jacobsens syndrome?Jacobsen syndrome is considered to be a mutation and not dominant or recessive. There is a heredity pattern for about 10% of the patient. In those cases, one of the parents has a fragile band on chromosome 11. Diagnosis A child is diagnosed before or after birth through a blood test called chromosome analysis. In the karyotype, you will see a rearrangement or deletion of a longer segment of chromosome 11. 70-75% of the people with this disorder are females. Acadian Care, Mandeville ADHD and Learning Support Group1150 West Causeway ApproachMandeville, Louisiana 70471(985) 235-3533 Childrens Craniofacial Organization 13140 Coit Road Suite 517Dallas, TX 75240 USAPhone #: 214-570-9099e-mail: contactCCA@ccakids.com 11q Research and Resource Group 11qusa@gmail.com 619-221-1900 2592 Laning Rd, San Diego, CA 92106 Jacobsen Syndrome Karyotype Picture Symptoms Carroll, Linzee. "Amy." 11q Research and Resource Group. 11q Research and Resource Group, 2011. Web. 26 Feb. 2014. <http://www.11qusa.org/media/>. "Charli." Kendra's World. Web Ring, n.d. Web. 26 Feb. 2014. <http://tinyurl.com/m8lqb8c>. "Blood." Howard J Luks, MD. Healthcare Social Media and Healthcare Online Presence, n.d. Web. 26 Feb. 2014. <http://www.howardluksmd.com/general-faq/what-is-prp-or-platelet-rich-plasma/>. "Karyotype." Citrus College. Sector Point, Inc., n.d. Web. 26 Feb. 2014. <http://www.citruscollege.edu/lc/archive/biology/Pages/ Chapter11-Rabitoy.aspx>.
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