Jacobsen syndrome

presentation about Jacobsen syndrome

1. 11q Terminal Deletion Disorder Jacobsen Syndrome Done by : Lamya Alsadhan. Supervised by : Ms. Rafah Almeer .

2. What is 11q terminal deletion disorder : Jacobsen syndrome? it is caused by the loss of genes from the end (terminus) of chromosome 11. called Jacobsen syndrome (JS) after the Danish researcher who first identified it in 1973.

3. What causes Jacobsen syndrome ? Deletion of genetic material at the end of the long (q) arm of chromosome 11. The size of the deletion varies among affected individuals. Larger deletions tend to cause more severe signs and symptoms than smaller deletions. Chromosome 11 Short (p) arm Long (q) arm

4. How is this disorder detected? Magnified chromosomes can be seen under a microscope. using a molecular analysis such as FISH . RED: 11q Telo GREEN: 11p Telo

5. What symptoms have been associated with Jacobsen syndrome? Delayed development. Attention deficit-hyperactivity disorder (ADHD). Distinctive facial features. Bleeding disorder called Paris-Trousseau syndrome . Heart defects .

6. A cure?... None so far…