Causes Of Fragile X Syndrome

A) Similarities between the symptoms of Tay-Sachs and Fragile X as well as the treatments or interventions.

Turner syndrome results in a monosomie of chromosome X and is the only viable monosomie known. One in every 5,000 newborns can inherit this disease. The mental abilities are not affected, although they are usually sterile owing to underdeveloped sex

Approximately one-third of the females with Fragile X Syndrome have a substantial learning disability, the other two-thirds have mild to moderate intellectual disabilities. This two-thirds may also experience issues related to their mental/emotional health as well as social and/or general anxiety disorders. Although rare, there are some females whose FMR1 Gene, which is the gene responsible for causing FXS, fully mutates; thus, eliminating any apparent signs of Fragile X Syndrome. These females usually remain undiagnosed until another family member is diagnosed with the syndrome.

infants are born weighing less the average newborn and are shorter in length. The central nervous

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. It is estimated that 5 per cent of people with a diagnosis of an Autism Spectrum disorder also have Fragile X.

Five other gene disorder that contributes to autism are (1) "EN2 (Engrailed 2) involved in cerebellum development. (2) GABR (Gamma Amino Butyric Acid Receptor) regulates brain cell migration. (3) OXTR (Oxytocin Receptor) participating in the response to stress and social skills. (4) RELN (Reelin) involved in neuronal migration in the developing brain. (5) SLC6A4, a serotonin transporter gene” (Johnson, Giarelli, Lewis, & Rice, 2013). As a result of all the researches done several chromosomal loci have been shown to be linked to Autistic Spectrum disorder including those at 2q24-2q31, 7q22-7q31, 7q34-7q36, and 17q11-17q21. Structural chromosomal changes involving deletions and duplication at 7q11, 15q11-15q13, 17p11.2, 22q11.2, and 22q13 have also been associated with forms of autism. However, the most common chromosomal abnormalities currently associated with autism include the fragile X mutation, other sex chromosome abnormalities, and abnormalities of 15q11-q13. “Evidence has shown that duplications of 15q11–q13 have led to higher risks of Autism Spectrum Disorder and developmental and cognitive deficits” (Flashner, Russo, Boileau, Leong, & Gallicano, 2013). Chromosome 15q11-q13.1 region is subject to genomic imprinting, which is an epigenetic process that results in monoallelic gene expression. Duplications lead to autism and are usually maternal in origin. Deletion of the maternal allele of chromosome 15q11-q13 cause Angelman syndrome (AS) a neurodevelopmental disorder

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,

Genes are a huge part of DNA that are passed from generation to generation. There are many genes on each chromosome; we have tens of thousands of genes that tell or bodies on how to develop. Genes are given letters to identify them. The gene responsible for fragile X syndrome is called FMR1. The FMR1 Gene is on the X chromosome. The FMR1 gene appears in four forms that are shown by the number of repeats of a pattern of DNA called CGG repeats. Individuals with less than 45 CGG repeats have a normal FMR1 gene. Those with 45-54 CGG repeats have what is called an “intermediate” or “grey zone allele,” which does not cause any of the known fragile X associated disorders. Individuals with 55-200 CGG repeats have

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

Fragile X syndrome (FXS), often referred to as Martin-Bell syndrome, is an inherited genetic condition, associated with intellectual and emotional disabilities ranging from learning problems to mental retardation, and mood instability to autism, especially in boys. In addition to intellectual disability, there are distinguishing physical features as well, including elongated face, protruding ears and low muscle tone

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.

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.

“Nearly all cases of fragile X syndrome are caused by an alteration (mutation) in the FMR1 gene where a DNA segment, known as the CGG triplet repeat, is expanded” (National Human Genome Reasearch Institution, 2013). Even though it affects both males and females, females usually have a milder case. The FMR1 (fragile x mental retardation 1) makes a protein, called fragile X mental retardation protein. People that have fragile X, do not produce this protein. Both

It’s a beautiful thing to conceive life’s bundle of joy, and another to conceive a child suffering from genetic disorders. Inheriting altered genes through autosomal dominant, autosomal recessive, X-linked dominant and X-linked recessive are potential leads to genetic disorders in offspring (Health Direct Australia, 2014).

Carriers of the fragile X premutation (55-200 CGG repeats) are not rare in the general population. It is estimated that 1:130-250 females and 1:800 males carry the premutation state. Female carriers of the premutation can transmit either their normal or premutation allele to their children. However, in the case of Fragile X syndrome, anticipation can occur upon maternal transmission as the premutation passes from one generation to the next one. This risk of expansion of the premutation to a full mutation allele rises as the CGG repeat number rises as well. Individual carriers of a premutation allele have consequently increased amounts of FMR1 mRNA but on the contrary, moderately lower FMRP. The fragile X premutation can give rise to two clinical