1 of 9

Jacobsen Syndrome

Ka'Shaun Haith & Jacob Moffatt

2 of 9

Genetic cause of Jacobsen Syndrome

  • caused by abnormality on chromosome 11
  • deletion of terminal end of q part of chromosome 11 (larger part of chromosome at the end)
  • approximately 170 - 340 genes deleted in disease

3 of 9

Effect of Gene Deletion

  • The genes deleted are not well understood or characterized yet
  • The genes must be important for the development of the brain, heart, and face
  • No record of disease being inherited genetically

4 of 9

Population w/ this syndrome

- estimated 1 in 100,000 newborns

- 200 recorded individuals

​

http://www.ojrd.com/content/figures/1750-1172-4-9-1-l.jpg

5 of 9

Symptoms

  • delayed development of motor skills (sitting, standing, walking) and speech
  • learning disabilities (behavioral problems such as shredding paper and other compulsive, repetitive actions) short attention span, and are easily distracted
  • symptoms similar to ADHD (Attention Deficit Hyperactivity Disorder) often diagnosed with ADHD

6 of 9

Symptoms (continued)

  • causes distinctive facial features such as widely set eyes, droopy eyelids, and a small lower jaw
  • 90% of cases have Paris-Trousseau syndrome - disorder of blood platelets causing issues with clotting and bruising
  • heart and skeletal defects also common

7 of 9

Treatment

  • treatment depends on severity of deletion
  • surgery may be needed to fix skeletal, facial, or heart defects
  • treatment often includes:
    • speech therapy
    • physical therapy
    • special education

8 of 9

History

  • Identified by Danish physician Petra Jacobsen
  • treatment designed to alleviate delayed learning and physical abnormalities

9 of 9

Bibliography

Evers, James M. "SpringerImages - a Karyogram of the Patient with Jacobsen Syndrome after Fluorescence R-banding. The Right Chromosome 11 Has a Deletion in the Long Arm of Chromosome 11. B FISH Analysis of the Patient with Jacobsen Syndrome Using the Subtelomeric Probe for 11q. Because Only One Signal Is Present in All Interphase Nuclei, the Deletion Involves the Terminal Region 11q. C Deletion Breakpoint Detected by Means of Array-CGH. The Profile of Chromosome 11 Is Shown by Plotting the Log2 Fluorescence Intensity Ratios of Each BAC/PAC against the Chromosomal Position. Thresholds for Copy Number Gain or Loss Were Set as Ratios of 0.3 and â��0.3, Respectively. Loss of the Subtle Region 11q24.2 to Qtel (8.2� Mb) Starting at PAC Clone RP11-432I22 Is Indicated by a Red Bar. For Breakpoint Calling, ACGHSmooth Software Was Used." SpringerImages. Springer Images, n.d. Web. 09 Nov. 2012. <http://www.springerimages.com/Images/MedicineAndPublicHealth/1-10.1007_s00277-006-0177-2-0>.

"Jacobsen Syndrome." - Genetics Home Reference. Your Guide to Understanding Genetic Info, 5 Nov. 2012. Web. 09 Nov. 2012. <http://ghr.nlm.nih.gov/condition/jacobsen-syndrome>.

"Treatments for Jacobsen Syndrome." - RightDiagnosis.com. N.p., n.d. Web. 14 Nov. 2012. <http://www.rightdiagnosis.com/j/jacobsen_syndrome/treatments.htm>

.http://en.wikipedia.org/wiki/Jacobsen_syndrome

​

​

​