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Martin Bell discovered Fragile X syndrome in 1969 when he observed a family with multiple members exhibiting intellectual disabilities and behavioral issues. He noted a specific physical characteristic, an abnormality on the X chromosome, which he termed "Fragile X." This discovery laid the groundwork for further research that eventually identified the genetic mutation responsible for the syndrome. Subsequent studies confirmed that Fragile X syndrome is linked to the expansion of a repeat sequence in the FMR1 gene on the X chromosome.
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What is the scientific name for Fragile x syndrome?
Martin Bell Syndrome.
Who was the founder of fragile x syndrome?
Martin bell
What is the scientific name for fragile x?
Martin Bell Syndrome.
By what other names is fragile X syndrome known?
also known as Martin-Bell syndrome, Marker X syndrome, and FRAXA syndrome
When and by who was Fragile X Discovered?
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.
What year did Sir Charles Bell discover Bell's palsy?
Charles Bell.
What is Martin Bell's birthday?
Martin Bell was born on August 31, 1938.
When was Martin Bell born?
Martin Bell was born on August 31, 1938.
When was James Martin Bell born?
James Martin Bell was born in 1796.
When did James Martin Bell die?
James Martin Bell died in 1849.
How old is Martin Bell?
Martin Bell is 73 years old (birthdate: August 31, 1938).
What did Alexander bell discover?
he discovered the telephone
