Genetic Project 2010: Facts about Klinefelter syndrome

Friday, April 23, 2010

Facts about Klinefelter syndrome

Klinefelter syndrome usually is not inherited but occurs during fetal development, so there is no means of preventing the disease. However, one risk factor for this condition is the mother giving birth at an older age; therefore, genetic counseling and testing is recommended.

No comments:

Post a Comment

Klinefelter syndrome

Klinefelter syndrome(also known as the XXY condition ), In this disorder, instead of having the normal XY chromosome pattern that normal males have, these men have an XXY pattern. It's caused by an extra X chromosome. Klinefelter syndrome is not inherited. Klinefelter syndrome is usually the result of a random event that occurs during the formation of reproductive cells (eggs and sperm).

This disorder can affect aspect of physical, language and social development. The most common symptom is infertility, because they often don't make as much of the male hormone testosterone as other boys. People with Klinefelter syndrome has less facial and body hair and may be less muscular than other boys. They may have trouble using language to express themselves. They may be shy and have trouble fitting in.

The XXY chromosome pattern can not be changed. But as early as possible start treatment is important. With treatment, most boys grow up to have normal sex lives, successful careers and normal social relationships. Treatments include:
1.Educational treatments
2.Therapeutic options
3.Medical treatment

This disorder has been found in people of all races and ethnic background. And only affect male. About one of every 500 to 1000 males has an extra X chromosome.

www.ghr.nlm.nih.gov/condition=klinefeltersyndrome www.mamashealth.com/syndrome/Kleinfeltr.asp www.healthscout.com/ency/1/000382.html

Marfan Syndrome

Marfan syndrome is a disoder that affects the connective tissue. In Marfan syndrome, the connective tissue isn’t normal. As a result, many body systems are affected, including the heart, blood vessels, bones, tendons, eyes, nervous system, skin and lungs.

Marfan syndrome is caused by a defect in the gene that encodes the structure of fibrillin and the elastic fibers, a major component of connective tissue. It is inherited as a dominant trait. It is carried by a gene called FBN1. Marfan syndrome is present at birth. However, sometimes it may not be diagnosed until young adulthood.

People with Marfan syndrome are typically tall, with long limbs and long thin fingers. There are more than 30 other symptons in Marfan syndrome, but most involving weak connective tissues in the heart, skeletal system, eyes and other organs.

There is no cure for Marfan syndrome yet, but several things like medications and surgery can minimize and prevent complications. Medicine to slow the heart rate may help prevent stress on the aorta. Avoid participating in competitive athletics and contact sports to avoid injuring the heart. and some people may also need surgical replacement of the aortic root and valve.

Marfan syndrome has been found in people of all races and ethnic backgorund. Marfan syndrome is fairly common, affecting 1 in 10,000 to 20,000 people.

www.americanheart.org/presenter.jhtml?identifier=4672 www.nlm.nih.gov/medlineplus/ency/article/000418.htm
www.ygyh.org/marfan/description.html

Turner syndrome

Turner syndrome is a condition that only affects females. It is caused by the absence (complete or partial) of one of the two X chromosomes. the patient has one X chromosome in some or all cells; or has two X chromosomes but one is damaged. Approximately 98 percent of all fetuses with Turner syndrome result in miscarriage.

Turner syndrome's symptoms are: short stature, puffiness or swelling (lymphedema) of the hands and feet, a low-set ears, soft nails that turn upward at the ends when at an older age, colored spots on the skin, problems with breast development, short fingers and toes, irregular rotation of wrist and elbow joints.

There's no specific cure for for Turner syndrome. However, there are many treatments can be done to minimize the symptoms. Use the growth hormone can help patients increse gorwth and probably final adult height, especially if treatment is started early enough in childhood. Another treatment is estrogen replacement, estrogens are crucial for maintaining good bone integrity and tissue health. This treatment is often started when a girl reaches about age 12 or 13.

Turner syndrome only affects females, it has been found in all races and ethnic people.The incidence of Turner syndrome in live female births is 1 in 2500.
www.nlm.nih.gov/medlineplus/ency/article/000379.htm
www.turnersyndrome.com/
www.ghr.nlm.nih.gov/condition=turnersyndrome

Genetic Project 2010

About Me

Klinefelter syndrome

Friday, April 23, 2010

Facts about Klinefelter syndrome

No comments:

Post a Comment

Klinefelter syndrome

What's the cause of the Klinefelter syndrome?

How many different treatment methods use to treat Klinefelter syndrome

How frequent is the disorder in the populations?

Klinefelter syndrome References

Marfan Syndrome

Can Marfan syndrome patients participate in athletics?

What part of the body does Marfan's Syndrome affect?

what is the most common synptoms of Marfan syndrome?

Marfan syndrome References

Turner syndrome

Which group of people are affected by Turner syndorme?

What is the cause of Turner syndrome?

Have specific cure for Turner syndrome?

Turner syndrome Reference

Followers

Blog Archive