Marker X Syndrome

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

Fragile X Syndrome is a genetic condition. FXS causes learning and behavioral challenges, intellectual disability as well as a variety of physical characteristics. Although Fragile X Syndrome can occur in males and females, males are affected more frequently than females are; furthermore, males with FXS generally experience characteristics with a greater severity than females with the condition do.

This syndrome is from a mutation of a gene on chromosome 15 and this causes problems in the production of fibrillin-1 which is a protein that is an important part of connective tissue. The name for the gene is FBN1. Basically, it is the “glue” that helps to support the tissues in the human body. A child born to a parent with this syndrome has a 50% of having it. However, in the remaining 25%, neither parent has the disease which gives them a 1 in 10,000 chance of having a child with this disorder. When a child of two unaffected parents is born with it then the genetic mutation occurs in either the egg or sperm cell at the time of conception.

It mostly affects males, who receive the abnormal X gene. Females with one abnormal X chromosome may have some effects of the gene, but the normal X chromosome can offer some protection against the gene. Fabry Disease occurs in all ethnicities and races. Type I occurs in 1 out of 40,000 males and type II is more common affecting 1 in 1,500 to 4,000 males. The prevalence of Fabry Disease in females in unknown due to the disease being X-linked. Unlike other X-linked disorders, Fabry disease causes significant medical problems in many females who have one altered copy of the GLA gene. These women may experience many of the classic features of the disorder, including nervous system abnormalities, kidney problems, chronic pain, and fatigue. They also have an increased risk of developing high blood pressure, heart disease, stroke, and kidney failure. The signs and symptoms of Fabry disease usually begin later in life and are milder in females than in their affected male relatives (ghr,

Because the genetic change is not an inherited disorder but rather due to random error during development, there is no specific race, gender, or regions in the world that are affected more than the other (Cassidy, 2012). The most common abnormality associated with PWS is due to the deletion of the paternal chromosome 15, which is found in approximately 70% of cases. Another possibility is due to maternal uniparental disomy which occurs in about 25% of cases. This is when the child does not inherit the paternal copy of chromosome 15, but instead receives two copies from the mother. The last 5% of cases is another form of genetic imprinting where the father’s chromosome 15 is present, but are not functional known as microdeletion (Griggs, 2015). Although research has narrowed down the region of the affected chromosome, the specific genes that are involved have yet to be found. There are also no solid indicators as to how they play into the development of PWS symptoms (Khor, 2016).

Fragile X Syndrome effects people of all ages from birth till death, in many different ways. Some people with the syndrome will show signs and symptoms but others may show none. Females often will not show signs or symptoms and the only way you can tell is through testing, but on

Fragile X Syndrome, or FXS, is the most commonly inherited form of mental problems and disabilities globally.

Fragile X Syndrome, also known as FRAXA syndrome, fra(X) syndrome, FXS, marker X syndrome, or Martin Bell syndrome, is a disorder onset by a genetic mutation in the FMR1 gene. This gene produces a protein called FMRP which regulates the production of other proteins and plays a role in the development of synapses, which are specialized connections between nerve cells (National Library of Medicine, 2014). The FMR1 gene has a DNA segment called CGG triple repeat, which is repeated about 5 to 40 times in a typically developing individual. There are two type of mutations associated with Fragile X: A full gene mutation and a gene premutation. In cases of individuals with a full gene mutation, the CGG segment is repeated more than 200 times (National Library of Medicine, 2014).

Fragile X Syndrome also known as “Martin-Bell Syndrome” , is an inherited disease that causes developmental issues with some behavioral problems. Martin and Bell first discovered this disease , at first they didn’t know that the disease was linked to developmental and behavioral issues until 1977 , then the two figured out that a particular form of mental retardation was X-linked. The lengthening in the chromosome is stretched more on the FMR1 chromosome. When the gene is lengthened then the production of a protein stops, which controls functions such as brain development and etc.

XYY Syndrome is a genetic disease where a male has an extra Y chromosome. This could then lead to an increased risk of learning disabilities.(Genetics Home Reference). XYY Syndrome

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,

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.

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

Quercia, N., MS, CCGC, CGC, & Alic, M., PhD. (2016). Fragile X Syndrome. In T. Moy & L. Avery (Eds.), The Gale Encyclopedia of Genetic Disorders (4th ed., Vol. 2, pp. 712-715). Farmington Hills, MI: Gale. Retrieved from

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 development in the womb or any time after birth. Heart defects can be related to TS along with physical abnormalities that catch the eye of doctors. Not all girls with this condition are prone to having learning disabilities, but it varies between individuals.