Fragile X Syndrome Analysis

In women, the FMR1 gene premutation on the X chromosome can expand to more than 200 CGG repeats in cells that develop into eggs. This means that women with the premutation have an increased risk of having a child with fragile X syndrome. By contrast, the premutation in men does not expand to more than 200 repeats as it is passed to the next generation. Men pass the premutation only to their daughters. Their sons receive a Y chromosome, which does not include the FMR1 gene. (fragile

Fragile X Syndrome was identified in the year 1991. This disability affects more males than females. Approximately 1 in 4,000 males are affected, however only 1 in 8,000 females are affected (Lombroso, 2003). Fragile X generates in the FMR1 gene. Fragile X is caused by an excessively repeating tri-nucleotide,

Fragile X Syndrome, commonly known as FXS, is the most inherited form of mental retardation. From a study conducted by Emory University School of Medicine (2015), at least 1 out of every 4,000 males and 1 out of 8,000 females are affected with this abnormality (Emory University School of Medicine, 2015). At present, new information on how to live with FXS are discovered daily. This is helpful to further expand the current knowledge and methodologies that are attributed to FXS. There is currently no cure for this abnormality. However, there are many areas of control where physicians and other healthcare professionals can provide intervention to improve the quality of life for who are patients diagnosed with this illness. According to Randi and Paul Hagerman (2012), there is still more to learn regarding the characteristics of FXS. Given the broader spectrum of involvement associated with fragile X syndrome, this health concern is far more sensitive compared to how it is being presented in the news report or social media (Hagerman, & Hagerman, 2012, p. 3). The instability caused by FXS affect a significant minority of children. Since this is the most common form of inherited developmental disability, it is often under-diagnosed (Carvajal, & Aldridge, 2011, p. 13). Although much has changed since FXS was first discovered in the 1950s, there is limited awareness regarding this health concern (Carvajal, & Aldridge, 2011, p. 13). The purpose of this research paper is to provide a

My genetic disorder is Fragile X Syndrome. Fragile X Syndrome is a disorder that causes you to take more damage when you hurt yourself and affects your ability to think. This disorder is tied to the X chromosome and nothing contributes to it, but it does contribute to De Grouch Syndrome. De Grouch Syndrome has more advanced affects. The cause is a boy inherits an X chromosome from only his mom but a girl can inherit it from mom or dad.

Deleterious MED12 Mutation in a Patient with Mitochondrial Dysfunction Expands the Phenotype of FG Syndrome

Fragile X Syndrome is a genetic disorder in a individual genes. It can causes mental retardation.

Fragile X syndrome, also called Martin- Bell syndrome or Marker X syndrome is an incurable genetic condition characterized by inherited mental retardation, intellectual disability and learning disabilities. This is considered the second most common cause of genetically associated mental deficiencies, after trisomy 21. A notable feature of this disorder is that the penetrance shows an increase tendency with passing generations. Although this genetic disorder is incurable, life expectancy is not affected in people with fragile X syndrome because there are usually no-life threatening health issues associated with this disorder. Fragile X syndrome is predominant in boys who present with some level of intellectual disability than in girls who may present only with some learning disability. Per statistics from www.emedicine.medscape.com, conservative estimates are that fragile X syndrome affects about 1 in 2500 -4000 males and 1 in 7000 – 8000 females. It also stated that the prevalence of female carrier status has been estimated to be as high as 1 in 130 – 250 population, the prevalence of male carrier status is estimated to be 1 in 250 – 800 population.

Congratulation! You’re expecting a child! Both you and your partner are thrilled that you got a child, but until doctor say you that your child has Fragile X Syndrome. Fragile X syndrome the disease that was passed down from your parents to children through their genes. However, it’s causes logical and developmental disabilities.

As a result, the missing chromosome can cause over 50 abnormalities that include: Anderman syndrome, Angelman syndrome, ataxia neuropathy spectrum, Bloom syndrome, breast cancer, Marfan syndrome, Prada-Willis syndrome, Tay-Sachs disease, and a lot more, depending on which gene is affected. Generally, the most common observable behaviors are: intellectual disability, seizures, psychiatric disorders, distinctive facial features and moodiness. Of particular interest is Angelman syndrome which is also a sex-linked disorder. But regardless of the source of inheritance, this disorder can be observed as any of the above listed behaviors or medical

The X chromosome is a sex chromosome which is normally seen in women as (XX) and in men (XY). The FMR1 is a mental retardation gene. Its main function is to give a set of guidelines for the body in making protein. When this gene is lengthened the process of making the protein is stopped and involves brain development and other functions. Fragile X Syndrome can be passed down through generations. A daughter born to a father who has FXS will be affected but the son will not be effected as they do not inherit the fathers X chromosome. If the mother has FXS both genders have 50% of inheriting this syndrome.

Deletion of the pseudoautosomal region of one X chromosome. Address how this would affect males and females and

Since the cloning of the MEFV gene, about 304 sequence variants have been reported that 167 of these variations have been associated with FMF (online at http://fmf.igh.cnrs.fr/ISSAID/infevers). According to studies, four founding mutations, M694V, V726A, M680I, M694I on exon 10 and the E148Q on exon 2 are the most common mutations and comprise 85% of all mutations in the countries where FMF is prevalent (Simon and van der Meer, 2007).

Rett syndrome (RTT) was first described by Andreas Rett in 1966 and thereafter by Bengt Hagberg and colleagues in 1983.[1, 2] RTT is one of a group of neurodevelopmental disorders most often caused by de novo mutations in the X-linked methyl-CpG binding protein 2 gene, MECP2.[3, 4] RTT appears to affect almost exclusively females and the frequency is 1/10,000–15,000 live births and isusually the result of dominantly acting de novo mutations in MECP2. [2, 3, 5, 6] Females have two X chromosomes, and random　X-chromosome inactivation (XCI) occurs in roughly a 50:50 distribution in RTT patients. The variation in XCI patterns with skewing has been hypothesized to attribute to the range of severities in clinical phenotypes.[7-10] Patients with RTT

Verkerk discovered the fragile X mental retardation 1 (FMR1) gene in 1991, in individuals with a

Triple X Syndrome, also known as Trisomy X or 47,XXX, is a genetic disorder in which an extra X chromosome is present in each of a female’s cells. “Triple X syndrome results from an extra copy of the X chromosome in each of the female’s cells. As a result of the extra X chromosome, each cell has a total of 47 chromosomes (47,XXX) instead of the usual 46,” (Triple X Syndrome.) About 1 in 1,000 newborn girls are affected with this condition. Trisomy X is a genetic disorder that is not inherited, has little to no symptoms, and has no cure or treatments.