2011 Group Project 5
| Note - This page is an undergraduate science embryology student group project 2011. |
Your Project Goes Here. Oh yes it does!
Introduction to Fragile X Syndrome
Fragile X Syndrome does not create X-Men. Sad face.
History of the disease
Name origin
Fragile X Syndrome is given its name due to an abnormality of the X chromosome. The abnormality arises from a site of constriction on the long arm of the chromosome X which is prone to breaking, resulting in a chromosomal lesion[1]. The rare fragile site on the X chromosome is known as FRAXA and this abnormality is repeated within the untranslated region (UTR) of the FMR1 gene that is affected[2].
Martin and Bell (1943)
It was well known in the late 19th century that there were an excess number of retarded males in comparison with retarded females. It was Martin and Bell in 1943 who first reported that the reason for the excess number of retarded males was due to a sex linked inheritance associated with severe mental retardation. The two also noted that there was a lack of unusual physical features related to the mental retardation, including the shape of the head and face. Therefore Martin and Bell were also the first to report sex linked mental retardation not associated with microcephaly or microphthalmia [1].
Lubs (1969)
The first documented report of the existence of the marker X chromosome was by Herbert Lubs. After studying a family of three generations which included four retarded males, it was evident that all four males possessed the marker X chromosome as well as the heterozygous females who were not considered clinically retarded [1].
Epidemiology
Etiology
Genetic Contribution
Development of the Disease
Fetal Development
At Birth
In Adult
Signs and Symptoms
Physical phenotype
Social interaction
Intellectual development
Recent Research
Autism and Fragile X Syndrome
Diagnosis
Treatment
References
Glossary
Microcephaly: Neuro-developmental disorder in which the circumference of the head is more than two standard deviations smaller than average for the person's age and sex.
Microphthalmia: is a developmental disorder of the eye characterised by small eye/s.
2011 Projects: Turner Syndrome | DiGeorge Syndrome | Klinefelter's Syndrome | Huntington's Disease | Fragile X Syndrome | Tetralogy of Fallot | Angelman Syndrome | Friedreich's Ataxia | Williams-Beuren Syndrome | Duchenne Muscular Dystrolphy | Cleft Palate and Lip
