Wolf Hirschhorn Syndrome Research Paper

Wolf Hirschhorn Syndrome (WHS) Wolf Hirschhorn Syndrome (WHS) is a genetic disorder caused by a deletion (the removal or obliteration of written or printed matter) in the genetic material near the short (p) arm of chromosome 4 (also written as 4p). The Genetic Home Reference tells us that “ there are two copies of chromosome 4, one copy inherited from each parent” (Genet). However big or small the individual with WHS is, then the size of the deletion changes. The bigger the deletion the more severe the symptoms become. Men are the gene holders for WHS although it is not usually inherited (Battaglia). Wolf Hirschhorn Syndrome affects 1 in about 50,000 live births with a female to male ratio of 2:1. 002% out of 100 people get WHS. The reason it is so rare is because the deletion is totally random except if the parent is a carrier of WHS. What I mean by “totally random” is when the cells are producing a part of chromosome 4 is deleted for no apparent reason. When a parent is a gene holder the deletion is more common to form (Williams). It is unknown if WHS affects the lifespan of the human with it, although people with a bigger deletion are known to have had a faster death rate than people with a smaller deletion. (Shannon) …show more content…
Major features are the facial appearance, delayed growth and development, intellectual disability, and seizures. Almost everyone who has WHS has noticeable facial features and a flat nasal bridge with a high forehead. It is described as a “Greek Warrior Helmet” appearance when this combination of characteristics appears. The eyes are usually widely spaced out between the nose, upper lip (A short Philtrum), a down chin, and poorly formed ears with small holes (Pits) or flaps of skin (Tags). People may also have crooked facial features and an unusually small head