Thursday, May 9, 2013

Turner syndrome

In one of my old blogs I talked about Klinefelter syndrome which is when a male has two X chromosomes and one Y chromosome. I also said that in females, or males with Klinefelter syndrome, one of the X chromosomes inactivates itself (however it still plays a small roll and some proteins are still transcribed from it). So what happens if a female only gets one X chromosome since one inactivates anyway? The answer is that the female will have Turner syndrome. If you wish to know more information about Turner syndrome this site goes into much more detail. It says
Picture taken from
"The most common feature of Turner syndrome is short stature, which becomes evident by about age 5....About 30 percent of females with Turner syndrome have extra folds of skin on the neck (webbed neck), a low hairline at the back of the neck, puffiness or swelling (lymphedema) of the hands and feet, skeletal abnormalities, or kidney problems. One third to one half of individuals with Turner syndrome are born with a heart defect, such as a narrowing of the large artery leaving the heart (coarctation of the aorta) or abnormalities of the valve that connects the aorta with the heart (the aortic valve). Complications associated with these heart defects can be life-threatening."
If after reading this you wondered what would happen to a male that had only one Y the answer is that they would not be able to survive since the X chromosome carries genes that are essential for human life.


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