By: Jessica Kearns
Dec. 3, 2013
What is Turner syndrome, you might ask? Well, Turner syndrome(TS) is a random chromosomal disorder that affects girls and women with common features that are caused by complete or partial absence of the second sex chromosome. But we’ll get into the dynamics of that after I explain why this topic is so important to me. You see, my daughter was diagnosed with TS right at birth. One look and the doctor knew.
My daughter, Alexis, was born 7 weeks early, disconnected from the placenta. The doctor immediately put her into an incubator and told me that the baby had TS just by seeing that she had extra skin on the neck(webbed neck), puffiness or swelling(lymphedema) of the hands and feet, and a low hair line. They ran a karyotype; a blood test used to analyze the chromosomal composition of a female. When the tests proved positive, I researched all I could on the subject. Since I’m finding new things everyday, here is what I found out so far.
TS was named after Dr. Henry Turner. Who studied seven young girls in his office that were suffering from dwarfism and lack of sexual growth or development. He found that after counting the chromosomes in the white blood cells(WBC), that about half the girls had only 45/X instead of the normal 46/XX. A third had two X chromosomes but part of one X was missing.
A girl can be diagnosed throughout her lifespan, including adulthood(if signs are subtle). Some of the signs Alexis had at birth include: lymphedema(swelled hands/feet) in a newborns, specific heart...