Fragile X Syndrome History

The History of Fragile X Syndrome. The first appearance the Fragile X syndrome was in 1943 when doctors Martin and Bell discovered that a specific form of mental retardation was X-linked. Both go on to describe a pedigree of X-linked mental disability. (Martin & Bell, 1943). Fragile X Syndrome has not been around for that long, actually less than eighty years. Later in 1969, Herbert Lubs a doctor developed the chromosomal test for Fragile X chromosome. Lubs accomplished this chromosomal test by first noticing an unusual "marker X chromosome" in association with mental disability. The chromosomal test was not used in abundance till the late 1970’s. (Lubs, 1969). Not even a year later though, Frederick Hecht established the term "fragile site". The fragile site is referred to as a non-staining gap at a specific point on a chromosome. Fragile X Syndrome is also known as the Escalante syndrome, which is due to the findings of Peruvian geneticist Julio Anibal Escalante. However, it was not until 1991 that
In a gene, the information for making a protein has two parts the introduction and the instructions for making the protein itself. The introduction is also referred to as the Promotor because of how it helps to start the process of building the protein. People who have between the amount of 55 and 200 repeats in the promotor part of the gene may have the zone called, premutation. (Berry-Kravis et al., 2007). Premutation may cause the gene to not work properly, but it does not cause intellectual and development disability. The independent neurological disorder FXTAS arises from what is referred to as a premutation. This disease is thought to stem from increased levels of FMR1 transcript containing an elevated number of repeats. (Toniolo, 2006). Instead, people who have 200 repeats or more in the promotor part of the gene may have full