Wolf Hirschhorn Syndrome Research Paper

When tasked with the objective to choose one disease that is caused by a defect in chromosome number or structure, my options were quite varied. However, one disease in particular that stood out to me was, Wolf Hirschhorn syndrome. I chose this particular syndrome, because I knew of a family who’s child was diagnosed with, Wolf Hirschhorn syndrome: a former employee of my father. What stood out most to the other children and myself, about this child, were her facial features: a very small head (similar to that of patient’s who suffer from microcephaly) and her asymmetrical facial features. Like any inquisitive child, and more specifically someone who had a serious interest in human science at the time, I always wondered exactly what caused said malformations. It was not only until I got much older, that I had the moxie to ask exactly what caused this child’s facial abnormalities.
The deletion is specifically of the distal short arm of the chromosome, which is associated with various types of chromosomal abnormalities. This deletion causes a plethora of adverse effects both genotypically and phenotypically. Characteristics of Wolf Hirschhorn syndrome, includes severely delayed cognitive and motor skills, facial and physical abnormalities, delayed growth and development (both pre-natal & post-natal), and frequent convulsions. Said characteristics of Wolf Hirschhorn syndrome are so prevalent throughout the entire body, because the genetic error associated with the deletion of the distal short arm of chromosome 4, causes abnormalities/malformations which affects growth and development during the person’s fetal stage. The deletion can occur in a variety of sizes on chromosome 4; meaning that the severity of the characteristics that are associated with Wolf Hirschhorn syndrome varies in severity, due to the size of the deletion of chromosome