Triple X Syndrome

Hemophilia A is an X-linked disorder caused by a deficient or defective clotting factor VIII (FVIII) protein, and characterized by spontaneous or traumatic bleeding into joints and muscles [Ragni]. It causes afflicted individuals to not be able to coagulate their blood very efficiently or at all when getting an injury in which blood is exposed either internally or externally. This disease can be very dangerous and fatal because major blood loss can occur if the patient has not received treatment.

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.

Hemophilia A is a known X-linked recessive disorder. This condition or bleeding disorder is characterized by a deficiency in the activity of a coagulation factor, which in this case is F8 or coagulation factor VIII. This condition is clinically known to be heterogeneous and its severity depends on the plasma level of the coagulation factor VIII. Varying levels of hemophilia exist which are categorized based on percentage of coagulation factor within blood plasma compared to normal levels.

Most of the girls that have Turner Syndrome are way shorter than average girls. The girls often have their normal height up to three years old. After they are three the growth rate starts to slow down. Ovaries that are non-functioning are other symptoms of Turner Syndrome. A girl’s ovaries begin to produce sex hormones at puberty. This doesn’t happen with most girls who have Turner Syndrome. Most don’t start their periods or develop breast

A 43 year old woman presented with a one year history of abdominal pain and constipation. She also gave a history of nodules in her mouth which biopsy showed papilloma (Figure A). In endoscopy nodularity of the esophageal mucosa was seen in the entire length and a single nodule was seen on the epiglottis. Coarse nodularity was seen in the stomach from cardia and fundus to the antrum. Nodularity of the bulb and D2 was also seen and multiple polyps of different sizes were seen in colon (Figure B) (Video 1). Biopsies was taken from these polyps and reported as hamartomatous polyps.

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,

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

a very small amount of females who inherit the entire mutation of the FMR1 gene (which causes FSX) will not show any signs of FSX

One out of five thousand children get Edwards or Trisomy 18 Syndrome and those children only live less than a few years. This negative mutation kills most babies after one year. It starts out all in the 18th Chromosome, which causes the disorder.

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

About 1 in 4,000 males and 1 in 8,000 females have Fragile X syndrome. Although Fragile X syndrome is rare, permutations in the FMR1 gene are common. A study we researched of 6,747 people found that 1 in 151 women and 1 in 468 men had the permutation. People with the permutation on the FMR1 may not have any symptoms of Fragile X. This permutation on the FMR1 can change from generation to generation, which can cause Fragile X syndrome. Fragile X is usually less common in females. A female usually inherits two X chromosomes, one from each parent (XX). If one of the X chromosomes has the fragile X mutation, and the other X chromosome does not, that can give incorrect genetic information. About half of affected females do not show any symptoms of fragile X syndrome because one X chromosome that is not affect over shadows the X chromosome that is affected. In males, fragile X is more common and even worse. A young male usually inherits one X chromosome (XY). If that X chromosome has the fragile X mutation, the male will more than likely have the full permutation of Fragile X because the Y chromosome does not carry the genetic

On the other hand, males with XYY Syndrome have normal intelligence, but on average have a 10 to 15 points lower IQ than their siblings. 50 percent of cases have also reported learning disabilities, such as speech delays and language problems. (NORD). Other symptoms are attention difficulties, and emotional or behavior issues. (Healthline)

Males will have lose joints and large testes. Boys may have behavioral problems such as hyperactivity, hand flapping, hand biting, extreme fits, and autism. They may also have eye, skin, or heart problems. Girls with fragile X syndrome will have mild mental retardation. Girls may also have difficulty becoming pregnant and have a late menopause. Both men and women may have problems with tremors and poor coordination. Even through there is no cure for children with FXS do benefit from treatment such as therapy and special education

Due to the wide variability of the many symptoms and effects, affected males with KS may have all of the symptoms and some may only have a few of the effects. Common symptoms are sparse body hair, tallness, infertility, small testes, and gynecomastia. As said before, many males with Klinefelter syndrome do not show many of these effects on the body but that does not mean that

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.