Fragile X syndrome is an intellectual genetic disability that causes behaviour problems, learning difficulties and various physical characteristics. Fragile X syndrome is the most commonly inherited intellectual disability and the most common cause of autism. The degree in which the disease affects people varies from mild learning difficulties through to severe intellectual impairment. This genetic disability is caused when the gene that normally produces a certain protein that helps with brain development is changed.
In 1943 Martin James Purdon realised that a particular form of mental retardation was X-linked (later known as Fragile X syndrome). Later on in 1969, Hebert Lubs developed a chromosomal test that detected the Fragile X gene, …show more content…
In most cases to diagnose the severity of their impaired intellect, they us an intelligence test to measure their ability to comprehend and understand certain things. This results in an IQ score, but this test doesn’t only reflect the ability to think, it can also determine attention disorders, hyperactivity, anxiety and many things besides the ability to think. Researches consider people who score between 80 and 115 to have an average intelligence, on the other hand, only less than 20 per cent of males with have an IQ in this range. At the same time, a few people are severely or profoundly impaired with IQs below 40 or 25. IQs of 40 and 85 are generally considered to be mild to moderate mental …show more content…
Daughters born to male carriers will inherit their fathers affected X chromosome and they will also be carriers. Sons born to male carriers will not inherit their fathers X chromosome and furthermore will not be affected by Fragile X.
Although the level of these repeats varies for each person, boys seem to have more severe impacts then girls; this is because boys only have one X chromosome whereas girls have 2. The segment which repeats and causes this condition is called the “CGG triple threat”. Genes contain a certain code or information that is used by other parts of a cell to create certain proteins. These proteins make up the form and structure of all our bodily organs and chemical functions.
Each gene has the information to create at least one protein, if this special code is changed then the cell’s ability is hindered in such a way where it may not be able to create the certain protein or not be able to make a form of the protein that the body can use. Fragile X is caused when the FMR1 gene makes abnormal amounts of Fragile X Mental retardation Protein, or FMRP. The amount of FMRP in the body determines the severity of the Fragile X Syndrome.
Inheritance
In 1943 Martin James Purdon realised that a particular form of mental retardation was X-linked (later known as Fragile X syndrome). Later on in 1969, Hebert Lubs developed a chromosomal test that detected the Fragile X gene, …show more content…
In most cases to diagnose the severity of their impaired intellect, they us an intelligence test to measure their ability to comprehend and understand certain things. This results in an IQ score, but this test doesn’t only reflect the ability to think, it can also determine attention disorders, hyperactivity, anxiety and many things besides the ability to think. Researches consider people who score between 80 and 115 to have an average intelligence, on the other hand, only less than 20 per cent of males with have an IQ in this range. At the same time, a few people are severely or profoundly impaired with IQs below 40 or 25. IQs of 40 and 85 are generally considered to be mild to moderate mental …show more content…
Daughters born to male carriers will inherit their fathers affected X chromosome and they will also be carriers. Sons born to male carriers will not inherit their fathers X chromosome and furthermore will not be affected by Fragile X.
Although the level of these repeats varies for each person, boys seem to have more severe impacts then girls; this is because boys only have one X chromosome whereas girls have 2. The segment which repeats and causes this condition is called the “CGG triple threat”. Genes contain a certain code or information that is used by other parts of a cell to create certain proteins. These proteins make up the form and structure of all our bodily organs and chemical functions.
Each gene has the information to create at least one protein, if this special code is changed then the cell’s ability is hindered in such a way where it may not be able to create the certain protein or not be able to make a form of the protein that the body can use. Fragile X is caused when the FMR1 gene makes abnormal amounts of Fragile X Mental retardation Protein, or FMRP. The amount of FMRP in the body determines the severity of the Fragile X Syndrome.
Inheritance