Bibliography

(2003 , February). Klinefelter Syndrome. Retrieved March 3, 2009, from : http://www.merck.com/mmhe/sec23/ch266/ch266g.html

(n.d.). About 47XXY/Klinefelter Syndrome. Retrieved March 3, 2009, from : http://www.aaksis.org/BrochureA.cfm

(2006, February 25). 47,XXY. Retrieved March 3, 2009, from : http://www.genetic.org/knowledge/support/action/198/

(2007, May 24). Klinefelter Syndrome. Retrieved March 3, 2009, from : http://www.nichd.nih.gov/health/topics/klinefelter_syndrome.cfm

How possible is it that a cure will be found?

There is no cure for klinefelter syndrome, though there are many treatments that can help with the symptoms. Though maybe in the distant future there might be a cure.

What are some organizations that can help a family cope with a child's disorder?

Klinefelter Syndrome Support Group Tel. (02) 9836 2970 or email: klinefeltersaus@hotmail.com

http://www.aaksis.org/

Klinefelter Syndrome and Associates 11 Keats Court Coto de Caza, CA 92679 888-99... (toll-free)http://www.genetic.org/

http://www.genetic.org/knowledge/support/action/C194/

What limitations does the person have?

The males that are affected by klinefelter syndrome are sterile, which means they can't have children. Also when they are young, they might have speech problems, causing them to stutter or a language problem.

What is everday life like? What is the quality of life?

During puberty, the males might have low self-esteem and have trouble fitting in with the other males. However at adulthood they can have similar lives as normal males and can have normal social relationships.

How can the disease be treated?

Testosterone therapy is used to increase strength, help with muscular development, grow body hair, improve mood and self esteem, increase energy and improve concentration. The males might also need counseling, to help them come to terms about their condition.

What is the life expectancy of someone with the disease?

Most men with klinefelter syndrome can live a normal and productive life. Early diagnosis, educational interventions, medical management, and strong social support will help the males live full and productive life.

What are the physical symptom of the disease?

As babies, many of the males have weak muscles and not much strength. The may sit up, crawl, and walk later than other babies. At about age 4, the males tend to be taller and have a lack of coordination. When they enter puberty, beacause they have a small amount of testosterone, they might have a taller, less muscular body, and less facial and body hair, and broader hips than other boys. As teens, the males may gave larger breasts, weaker bones, and a low energy level than other boys. At adulthood, they look like males without the condition, though a bit taller. Though they are more likely than other males to get certain health problems, such as autimmune disorders, breast cancer and etc. Also 95 to 99 percent of the males with klinefelters are sterile, which means they can't have children.

http://www.andrologyaustralia.org/images/pageContentImages/KlinefeltersIMG.jpg

How is the disease diagnosed?

Klinefelter syndrome is most often diagnosed during adulthood, using a karyotype, which the picture of the patient's chromosomes taken from his blood. It can also be diagnosed during the mother's pregnancy, with cells taken from the amniotic fluid that surrounds the fetus.

What are the chances of a person with this disease passing the disease to their offspring?

There is really not a chance for the parent to give klinefelter syndrome to their offspring. For one reason, klinefelter syndrome causes males to be sterile, which means that they cannot have babies.

How prevalent is the disease in the population?

The statistic for XXY is 1 in 500 to 1000 males. Though it is very rare for the males to have the symptoms of klinefelter syndrome.

http://learn.genetics.utah.edu/content/disorders/whataregd/klinefelter/images/kleinfelter_person.jpg

If the disease is chromosomal abnormality, describe the abnormality.

The disorder is caused by nondisjunction. For example, is a pair of six chrormosomes fails to seperate during the creation of an egg (or sperm), this is known as nondisjunction. When that egg combines with a normal sperm to form an embryo, that embryo may end up with two Xs and one Y, making it XXY.

How does a person inherit this genetic disorder? Is it dominant or recessive? Is it genetic or chromosomal?

Usually with males, they inherit an X from their mothers and Y from their fathers. With kliensfelter syndrome, the males inherit an extra X making it XXY. Which is typically caused by nondisjunction, the failure of homologous chromosomes to seperate properly during meiosis.

It is recessive and a chromosomal disorder.

http://learn.genetics.utah.edu/content/disorders/whataregd/klinefelter/images/kleinfelter_karyotype.jpg

What is a genetic counselor?

Job details-genetic counselors provide both information and support to families who have members with genetic disorders, and to families who may have the risk of inherited disorders. They identify families with the risk, investigate the problem in the family, find information about the disorder and analyze the inheritance patterns and give options to the family.

Qualifications-genetic counselors hold a master's degree from one of over 30 U.S. graduate programs. Certification is obtained through successful completion of documented clinical experience and the American Board of Genetic Counceling's examination.

http://www.uams.edu/chrp/genetics/gchomefamily32274457.jpg