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Fragile X Syndrome

Also known as Martin-Bell syndrome, Fragile X syndrome is a syndrome of genetic disorder which is the common cause of inherited physical and mental impairment. Related to autism, FXS symptoms also include delays in language and speech development.

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When and by who was Fragile X Discovered?

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Asked by Wiki User

Fragile x syndrome was first described in 1943 by J.Purdon Martin and Julia Bell whose family had eleven members with fragile x symptoms although they did not know the cause or have a name for the condition at this time. In 1969, Fragile x was first discovered under the microscope by a scientist called Herbert Lubs who discovered that one of the arms of the X chromosome in people with fragile x was constricted which gave it the appearance of being broken which is how the name 'fragile x' came about. In 1991 Verkerk identified the cause for transcriptional silencing of the gene Fmr-1, that encodes the protein FMRP.

Is paper fragile?

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How do you die from fragile x syndrome?

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Asked by Wiki User

You most likely won't die

Most people with fragile X live a normal life span, carriers are at a higher risk of having FXTAS when they are older which may in the end result in their demise. To learn more about Fragile X visit fragilex.org and fraxa.org, to learn more about FXTAS visit fxtas.org

What risks are associated with fragile X premutation?

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Asked by GaleEncyofMedicine

Individuals who carry a fragile X premutation are at risk to have children or grandchildren with the condition. Female premutation carriers may also be at increased risk for earlier onset of menopause

How can chalk be worn down?

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Asked by Wiki User

all you have to do is get ellie prangley to fart on it if you need her she lives in wales.............. she is in year11

What is a premutation?

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Asked by Wiki User

the CGG sequence in the FMR-1 gene can expand to contain between 54 and 230 repeats. This stage of expansion is called a premutation. People who carry a premutation do not usually have symptoms of fragile X syndrome

What causes disease fragile x?

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Asked by Wiki User

The fragile X syndrome is a genetic disorder caused by mutation of the FMR1 gene on the X chromosome.Expansion of the CGG repeating codon to such a degree results in a methylation of that portion of the DNA, effectively silencing the expression of the FMR1 protein.Mutation of the FMR1 gene leads to the transcriptional silencing of the fragile X-mental retardation protein, FMRP.

What makes an eggshell so fragile?

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Asked by Wiki User

because an egg shell doesn't have a hard coating like most other shells because an egg shell doesn't have a hard coating like most other shells

What ethnic group is more likely to get Fragile X syndrome?

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Asked by Wiki User

affects males and females of all ethnic groups. It is estimated that there are about one in 4,000 to one in 6,250 males affected with fragile X syndrome. There are approximately one-half as many females with fragile X syndrome as there are males

Is Fragile X syndrome deadly?

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Asked by Wiki User

No. Fragile X Syndrome is not deadly. People with FXS live a normal life span. For more information on FXS go to the website for the M.I.N.D. Institute at UC-Davis.