Fragile X Syndrome (FXS) is a Genetic Disorder.

Fragile X Syndrome (FXS) is a Genetic Disorder.


Assignment 1 The purpose of this paper is to address the following clinical scenario with the use of your textbook, external credible literature, and/or reliable electronic sources. Use the guide below to draft your paper and review the rubric to ensure you have met the assignment criteria.Fragile X Syndrome (FXS) is a Genetic Disorder. The expected length of the paper is approximately 4-5 pages, which does not include the cover page and reference page(s). Lisa Anderson, a 22 y.o., Caucasian single parent, is referred for genetic counseling by her pediatric Nurse Practitioner.


She has a 3-year-old boy with developmental delay and small joint hyperextensibility. The pediatric Nurse Practitioner has diagnosed fragile X-associated mental retardation. She is currently pregnant with her second child at 14 weeks of gestation. The family history is unremarkable. Please use the following headings/subheadings as a guide to draft your paper: Introduction (including a brief purpose statement) Identify the genetic mutation responsible for fragile X-associated mental retardation. Describe and discuss how it causes the clinical syndrome of developmental delay, joint hyperextensibility, large testes, and facial abnormalities. Identify which parent is the probable carrier of the genetic mutation? Explain why this parent and the grandparents are phenotypically unaffected. Discuss the likelihood that the unborn child will be affected? VII. Conclusion In regards to APA format, please use the following as a guide: Include a cover page and running head (this is not part of the 4-5 page limit) Include transitions in your paper (i.e. headings or subheadings) Use in-text references throughout the paper Use double space, 12 point Times New Roman font Spelling, grammar, and organization are appropriate Include a reference list (this is not part of the 4-5 page limit) Attempt to use primary sources only. That said, you may cite reliable electronic sources (i.e. ANA)Fragile X Syndrome (FXS) is a Genetic Disorder.


Fragile X syndrome (FXS) is a genetic disorder that leads to cognitive and intellectual impairments and other behavioral and physical deficits. The mutation of the fragile-X mental retardation that is located at the x chromosome cause the genetic disorder (Greenblatt &Spradling, 2018). The mutation occurs when there is an unstable extension of the CGG trinucleotide repeat in the fragile X gene. The intellectual and cognitive impairments caused by the disorder vary from mild, moderate to severe (Van Remmerden et al., 2020). This paper will analyze a case study of a boy diagnosed withfragile X-associated mental retardation.

Genetic Mutation

The disorder is an X-linked dominant patternand the disorder is inherited when one copy of the mutated gene within each cell is adequate enough and dominant to cause fragile X syndrome. X-linked dominant implies that females (2 X chromosomes), a mutation occurs in one the two genetic copies in every cell is adequate to cause fragile X- associated mental retardation (Greenblatt &Spradling, 2018). Males have 1 X chromosomes and thus mutation within the single genetic copy in every cell causes the disorder. According to Greenblatt &Spradling(2018)people with the fragile X, syndrome tend to have a full mutation of the FMR1 gene implying that they have more than 200 CGG repeats and the methylation of the gene is abnormal. Methylation refers to the chemical change occurring to the DNA having the genetic code of the FMR1 gene. The abnormal methylation allied to fragile X syndrome leads to the FMR1 gene being unable to produce FMR1.Fragile X Syndrome (FXS) is a Genetic Disorder.


Fragile X-associated mental retardation is caused by mutations within the FMRI gene. The FMRI gene is responsible for providing instructions to make a protein known as FMRP (Salcedo-Arellano et al., 2020). FMRP protein regulates the production of other proteins and is actively involved in developing synapses. Synapses are important to relay nerve impulses. The mutation of the DNA part calledCGG triplet repeat expands in the FMR1 gene causing fragile X syndrome. The CGG triplet repeat part is replicated from five to approximately 40 times. In individuals with fragile X- associated mental retardation, the CGG part is repeated over 200 times (Hagerman et al., 2018). The expanded CGG part silences the FMRI gene and thus this prevents the production of the FMRP protein by the gene. The shortage of FMRP protein interrupts how the nervous system worksleading to the symptoms and signs offragile X syndrome.The FMR1 protein is essential for normal development.Fragile X Syndrome (FXS) is a Genetic Disorder.

Individuals having 55-200 repeats of the CGG part have an FMR1 gene premutation and the majority of individuals with the premutation are normal intellectually. However, in some cases, people with a premutation have reduced levels of FMRP and this they have symptoms of fragile X- associated mental retardationas well as physical abnormalities like abnormally big ears and might also have psychological problems like depression or anxiety(Sitzmann et al., 2018). Some children having FMR1 premutation may manifest autistic-like behavior and learning disabilities.Fragile X Syndrome (FXS) is a Genetic Disorder.

How the Disorder Causes the Clinical Symptoms and Manifestations

The disorder is an X-associated dominant disorder that is allied to the enlargement of the CGG repeat within the 5′ untranslated region of theFMR1gene. The expanded CGG repeats interrupt the synthesis of fragile X protein that is a protein actively involved in brain function and development. The resulting disorder causes intellectual disabilities, as well as behavioral and physical deficits (Hagerman et al., 2018). The symptoms are most severe in males because males have only a single X chromosome. Physical characteristics associated with the disorder may encompass narrow and long face, prominent ears, high arched palate, and in males enlarged testicular volume. The psychiatric symptoms associated with the FXS phenotype include autism features, anxiety, attention-deficit/hyperactivity disorder (ADHD), and aggression(Sitzmann et al., 2018). These symptoms can significantly impact the daily functioning of an individual, disrupt schooling, and cause significant parenting challenges.Fragile X Syndrome (FXS) is a Genetic Disorder.

The Possible Parent who is a Carrier of the Genetic Mutation

The mother is the potential carrier of the genetic mutation. Sitzmann et al (2018)explain that a mother carrying Fragile X has a 50%prospect of passing the genetic mutation to the children. Fragile X’s gene is found within the X chromosome. Both females (XX) and males (XY) have a copy of the X chromosome and hence one of them can pass the mutatation to the children. However, since the gene for Fragile X is on the X chromosome, a father who is a carrier of Fragile X can only pass the mutated gene to his daughters and not sons because the Y chromosome does not carry Fragile X mutation. Mothers only have X chromosomes and thus they pass this to their children (Lee et al., 2018). Therefore, a mother with a genetic mutation of Fragile X can pass the gene to both daughters and sons. Therefore, since the child diagnosed with disorder is a male,the mother must be the carrier of the mutation.Fragile X Syndrome (FXS) is a Genetic Disorder.

Phenotypically Unaffected Parents/Grandparents

The mother and the grandparents are not phenotypically affected because they have pre-mutations of 55-200 CGG repeats which are normally unstable. People with premutation do not normally have fragile X syndrome (Sitzmann et al., 2018). However, when the pre-mutations are passed from one generation to another, they may become unstable and turn out to be full mutations. Females having a premutation of the FMR1 gene are at high risk of having children with fragile X syndrome (Salcedo-Arellano et al., 2020). This is because the number of CGG repeats can elevate when passing the gene from one generation to another. A high number of CGG copies in premutation indicates a high likelihood of the pre-mutations increasing to become a full mutation, leading to the fragile X syndrome in children(Sitzmann et al., 2018).Fragile X Syndrome (FXS) is a Genetic Disorder.

When males having premutation reproduce, the sons do not have any risk of inheriting the premutation since males do not contribute an x chromosome to the male offspring. On the contrary, female children having fathers with premutation will inherit the premutation, and hence the grandchildren of males having the premutation are likely to have fragile X syndrome (Salcedo-Arellano et al., 2020). Since the premutation is comparatively stable during the transmission from the father to the daughter, the daughters may never manifest or become affected byfragile X syndrome (Hagerman et al., 2018). Nonetheless, their children are at a high risk of being affected with fragile X syndrome since the premutation can be unstable during the transmission from one generation to another.Fragile X Syndrome (FXS) is a Genetic Disorder.

The Possibility of the Unborn Infanthaving the Disorder

The possibility of the future child having thedisorderis 50-50. When a mother has the Fragile X gene and a normal X chromosome, all children the mother will deliver have a possibility of getting the mutated gene even if the father has no mutations (Lee et al., 2018). The 50-50 odds are appliable to every child the parents have. Having a child with fragile X-associated mental retardation does not affect the probability of the mother having another child with the condition (Salcedo-Arellano et al., 2020).Fragile X Syndrome (FXS) is a Genetic Disorder.


The discussed genetic disoder is caused by mutations within the FMRI gene; a gene that provides instructions to make FMRP protein. FMRP protein regulates the production of other proteins and is actively involved in developing synapses. Deficiency of FMRP protein leads to developmental delays, cognitive and intellectual impairments, as well as behavioral problems.Fragile X Syndrome (FXS) is a Genetic Disorder.