Summary: This Encyclopedia article explains that Jacobsen syndrome regards by a distinctive facial appearance, mental impairment, and heart defects. The text list symptoms include wide-spaced eyes,eyelids that are droopy, inner eye covered by redundant skin, a broad or flat nasal bridge, a short nose with upturned nostrils, a small chin, low-set ears, and a thin upper lip. Among those diagnosed with Jacobsen syndrome malformation of the skull is very common and, leads to a small head. Children with Jacobsen syndrome usually have some degree of delay in development or have mental retardation. It is caused by a specific region of one copy of chromosome 11 that is missing, leading the affected person to only have one out of a possible two copies of the genes in that region.
It is the loss of these genes that leads to the multiple problems found in Jacobsen syndrome. Most deletions and chromosome rearrangements responsible for Jacobsen syndrome are not passed through families. Regarding statistics, one person in every 100,000 is affected by the disorder and more females than males have the disorder with 70–75% of cases being females. The diagnosis is usually after birth (sometimes done during pregnancy with process of amniocentesis) and is usually made through a blood test called chromosome analysis. There is no cure for Jacobsen syndrome nor is there a therapy that can replace the missing genes from the deleted segment of chromosome 11. But, speech therapy, occupational therapy, and physical therapy and an ear, nose, and throat specialist (ENT) may help to treat the symptoms.
Application to Research: This paper has an abundance of information, and gives me a specific aim that I can broaden my thought of pediatric cardiology from. Using the research about this disease, I can find other similar diseases and form a question, or even conduct further research on Jacobsen syndrome since there is no cure yet. Many additional sources are also included at the bottom of the journal and can be used to branch off to other people’s research that I can use to get a better understanding of the topic/ observe how much research is already out in the scientific community.