Marker X Syndrome

disorder that I would like to discuss is Fragile X syndrome. Fragile X, often called Martin-Bell syndrome for it’s the man who discovered it is a trinucleotide repeat disorder that is found on the sex chromosome X. Fragile X was discovered by Bell in 1943 after he examined a family in which all the boys showed signs of mental retardation. He discovered that the boys X chromosome he found that the long arm had become thin and fragile looking. Fragile X affects the genders separately due to its location

Fragile X is a disease which severely influences the everyday lives of those affected by it. It is a disease which unfortunately limits an individual in several respects. Physical symptoms include an elongated face with larger than normal ears and feet. Additionally, the individual will have a difficult time interacting with others due to shyness and trouble with processing faces, thus encountering behavioral road blocks. Most importantly, the individual may have intellectual disabilities such as

The genetic mutation Fragile X syndrome is the most commonly inherited form of intellectual disability. Because the disease was first studied in 1943 by British physician James Purdon Martin and British human geneticist named Julia Bell, Fragile X is also referred to as Martin-Bell syndrome. Though it was not until 1969 that scientist Herbert Lubs discovered what exactly causes Fragile X syndrome. He explained that those who obtain the mutation will possess an X chromosome with an unusual gap

Turner’s syndrome is a condition that effects 1 in 2,500 newborn girls (Bondy, C.A. 2009). There are many names for this condition including 45 X, TS, Ullrich-Turner syndrome, and Turner syndrome. While females usually have two X chromosomes, these girls are born with only one X chromosome or the second X is altered. While some of the babies make it through full term, some who have this condition are prone to unexpectedly aborting. Diagnosis of the missing or altered chromosome could happen during

presented over Fragile X Syndrome. I will be honest, most of this section will be from what I read from the slides (or past knowledge presented) because I could not follow that presentation—but I will talk more about why in the process section. Fragile X is the most common INHERITED cause of intellectual disabilities. It affects 1 in 4,000 males and 1 in 8,000 females. The reason it affects more males than females is because the syndrome is caused from a mutation on the “X” sex chromosome. Since

diagnosed with the turner syndrome, The turner syndrome can really affect how girls live in there normally daily lives. The turner syndrome can only be effected by girls, one of the main symptoms is that the girl who has it tends to be shorter..Boys are not able to get the turner syndrome (only girls). Doctors don’t know exactly what the turner syndrome is they just know that it has to do with a girls chromosomes. Most girls with turner syndrome are

ragile X; 1. Provide a description of the disability and its causes. Include any relevant information such as statistics and diagnosis procedures. Fragile X Syndrome is a genetic condition causing intellectual disability, behavioural and learning challenges and various physical characteristics, it occurs in both genders but effects males more. Also is the most common gene for Autism worldwide, every week in Australia one child is born who is fully affected and 20 children are born who are carriers

5671). Fragile X syndrome (FXS) is the most common inherited form of intellectual disability and is universally recognized as the monogenic cause of Autism. The gene responsible for Fragile X Syndrome, FMR1, is located on the long arm of the X chromosome. It contains a CGG repeat sequence in the 5’-untranslated region that, on expansion to greater than 200 repeats, results in gene methylation and transcriptional silencing of the FMR1 gene. The absence of its protein product, fragile X mental retardation

established which may be accessible and available in the next years to come (Center for Disease Control and Prevention, 2014). Treatment for Fragile X Syndrome FRAXXA, one of the leading companies that is in search for a cure to FXS does its best to extensively study and analyze fragile X syndrome. Although it is true that there is no cure for fragile X syndrome yet, there are now available procedures and intervention programs that are meant to control the progress of the condition. These

Fragile X is a genetic condition involving changes in part of the X chromosomes, it is the most common form of inherited intellectual disability in boys. Often called the most common disease you never heard of. It was discovered by Martin and Bell in 1943. Effects of this disorder can be, Physical development where the physical facial appearances will appear after puberty and the more they age. Also, mental ability like people with this disorder could have some behavioral problems for example, problem