Analysis Of The Fragile 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

Females are carriers in their X-Chromosome and they have the chance of passing the disease on to their children, 50-50 to a girl and 50-50 to a boy. If the girl does receive the gene she becomes a carrier. If the boy gets the gene then he has the disease. Males do not pass on the gene to their children because they pass on the Y-chromosome and the disease is X specific. Some female carriers have indicators of being a carrier by having symptoms of cardiomyopathy, shortness of breath during exercise, and muscle weakness in the back, arms, and legs. There have been very rare instances where a girl has not received a

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

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.

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 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,

These disorders highlight the many jobs each chromosome performs by showing us how they are effected by mutations. For instance, there is a disorder known as fibrodysplasia ossificans progressiva, also known as FOP, that makes science fiction a reality. “Mutations in the ACVR1 gene cause fibrodysplasia ossificans progressiva. The ACVR1 gene provides instructions for producing a member of a protein family called bone morphogenetic protein (BMP) type I receptors.” (“Fibrodysplasia Ossificans Progressiva” - Genetics Home Reference).

Men who exhibit the behaviors associated with FXS, then have inherited the disease from their mothers. To continue with the transmission genetics pertaining to this syndrome, it is also known that there are more than twice as many female carriers of the disease than male carriers (1). Of the approximately 1 in 259 women in the population who are carriers of the fragile x mutation, some are pre-mutation carriers and others are full mutation carriers. The former class is generally unaffected by the disease. The full mutation carriers, however, exhibit a range of mild to moderate behaviors associated with learning disabilities and retardation. Thus, the disease can vary in severity, a behavioral characteristic attributable to the varying degrees of expressivity of the mutant gene responsible for the disease.

The XXY syndrome, most commonly known as Klinefelter syndrome (KS), only affects males of all ages. This syndrome occurs when there is a random genetic error after conception and is not curable, however treatment can help.All females have XX chromosome and all males have XY chromosomes. Unlike the normal XY type that all males have, males affected have an additional X chromosome which results into many symptoms such as impaired spermatogenesis, low testosterone, and male hypogonadism. Since Klinefelter syndrome is related to the sex chromosomes of males, it is a sex link trait.

If a person with XYY syndrome should be equally “judged or punished” as other individuals due to the inability of an affected person to control a predisposal antisocial and criminal behavior.

Klinefelter Syndrome is a sex chromosome disorder. The disorder is described as having at least two X chromosomes and one Y chromosome (47,XXY) (Huether 47). Because there is at least one Y chromosome in the genetic make up, this disorder only affects males. Males with Klinefelter Syndrome often have delayed physical, cognitive, speech and language development along with small testicles (Defendi). These children also tend to be quiet, shy, have unassertive personalities and diminished self-esteem (Mazzocco 47).

Turner Syndrome is caused by a missing or incomplete X chromosome. People who have Turner Syndrome develop as females. Some of the genes on the X chromosome are involved in the growth of your height and sexual development, which is why girls with this disorder are shorter than normal and have incompletely developed sexual characteristics. Within this disorder there can be many symptoms, for example: swelling hands and feet, heart defeat, pregnancy chorionic villus sampling or amniocentesis. There are also major causes contributing to this disorder including a stocky build, arms that turn out slightly at the elbow, receding low jaw, a short webbed neck and low hair line on the back of the neck. Also includes backtracked puberty, ovaries undeveloped properly and effects sexual development.

Individuals impacted by Turner Syndrome (only affects females) are missing a sex chromosome in this syndrome the x chromosome completely or partially. Symptoms of Monosomy X include short stature, failure to begin puberty, heart defects, learning disabilities, and social problems. Monosomy X can be caused by a non-disjunction of the sex chromosome in a gamete either during meiosis phase 1 or meiosis phase 2. Turner Syndrome occurs randomly, so it can occur evenly likely every time a gamete is made. However, in 75%-80% of the time men are the ones with one less sex chromosome but again this is random. Surprisingly, Monosomy X is quite common appearing 1 out of 2000-2500 live births, and this syndrome also affects over 108,800 women just in the

On the other hand, there is klinefelter syndrome. In which, a male has one or more extra X chromosome. Klinefelter syndrome is fairly common, in that, it affects approximately 1 in 500 - 1,000 newborn males. Although there is only mild signs and no symptoms of this, but once sexual development starts to occur, it can be noticed. For instance, the extra X chromosome often prevents the testes from functioning normally and reducing the production of testosterone (Yarber, p. 146). Additionally, once the boy hits puberty, gynecomastia can occur, or breast development, along with sparse body hair and small penis.

The XYY Syndrome is a rare chromosomal disease that affects males by having two Y chromosomes instead of one. Those affected are usually taller, have learning disabilities, excess acne problems (during adolescence), and behavior problems. Although they do have learning disabilities, their IQs are mostly normal, although slightly