2011 Group Project 5

Note - This page is an undergraduate science embryology student group project 2011. 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

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Your Project Goes Here. Oh yes it does!

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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 X chromosome which is prone to breaking, resulting in a chromosomal lesion.

Martin and Bell in 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 (1943) who first reported that the reason for the excess number of retarded males was due to a sex linked inheritance in regards to severe mental retardation. The two also noted that there was a lack of unusual physical features associated with the mental retardation, including the shape of the head and face and therefore were the first to report sex linked mental retardation not associated with microcephaly or microphthalmia.

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.

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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