Turner Syndrome is a rare disorder that only girls can get that is not preventable and parents can’t cause it. In the United States one out of every 2,000 girls have this disorder. A girl could get Turner Syndrome at any age and doctors can find out if a girl has it before they are born. It was discovered in 1938 by Dr. Henry Turner when he was trying to help a group of girls with dwarfism and nothing happened to them after they used the treatment that he gave them. The most common sign of Turner Syndrome is not having the second female sex chromosome making it harder for girls with it to have kids but they could if they take fertility treatment. They can also have a better chance of having heart and kidney abnormalities and ear infections.
Turner syndrome is a chromosomal condition that affects development in females. The most widely recognized element of Turner syndrome is short stature, which gets to be obvious by about age 5. An early loss of ovarian function (ovarian hypofunction or premature ovarian failure) is likewise extremely common. The ovaries grow ordinarily to begin with, however egg cells (oocytes) generally kick the bucket rashly and most ovarian tissue ruffians before birth. Numerous young ladies don't experience puberty unless they get hormone treatment, and most can't conceive (barren). Small percentages of females with Turner syndrome hold ordinary ovarian function through young adulthood (Turner Syndrome, 2016).
scoliosis, cataracts , scars, overweight, Chrohn diseasChromosome Patterns The normal female has 46 chromosomes, of
Between the 15th and 18th weeks of pregnancy, a woman can have an amniocentesis to test for the Tay-Sachs gene. In this test, a needle is inserted into the mother's belly to draw a sample of the amniotic fluid that surrounds the fetus.
Gonadal Dysgenesis, also known as turner syndrome, is a rare medical disorder that affects 1 in every 2,500 girls (kidshealth). It is a chromosomal that occurs when one of the two X chromosomes found in females are missing or is incomplete. This condition only affects females. Although researches don’t know exactly what cause turner syndrome, they do know that it’s a problem with a female chromosome. Females who are born with Tuner Syndrome are short in height and effects their sexual development and the ability to have children. Other features of this condition that can vary among women who have turner syndrome include: extra skin on the neck, heart defects, puffiness or swelling on the hands and feet, and/or kidney failure.
Amniocentisis is the most common prenatal test performed today (Morris, 1993). While the test is not totally risk free, estimated fetal loss due to amniocentesis is less than 0.5 percent (O'Connor, 1989). This procedure involves the extraction of a small amount of fluid surrounding the developing fetus. Within this fluid are cells which contain the genetic information of the fetus. Upon analysis of this fluid, the determination of the sex as well as the location of genetic abnormality causing genes can be identified.
Ever since I was a little girl, I have always wondered why God chose to give me the diseases I have. Did I do something wrong? Did my parents do something wrong? I felt as though God had turned on me and deserted me, and no matter how many times my mom told me that God has a plan for everyone, it never really made sense. I still constantly wondered if maybe God was mad at me or was maybe punishing me for something out of my control. It was not until I met Anyaa that I realized that God did not give me a challenge by giving me these permanent diseases, but he really granted me a gift.
Amniocentesis is a procedure where a sample of amniotic fluid (liquid that surrounds the fetus) is taken to see if the unborn child is suffering from chromosomal or metabolic disorders. This can be performed between the 12 and 16 weeks of pregnancy.
Different studies and different recourses show that about 1 in 33 babies that are born in the U.S have a birth defect. I decided to use this known fact from the Human Biology thirteenth edition textbook by Sylvia S. Mader and Michael Windelpecht due to the fact that not many people know or even care to think about it— that is— unless it happened to them or someone in their own circle. In order to understand how to prevent and test for a birth defect you need to understand some common definitions and words that can be used while reading about the topic. For starters, as stated in the merriam-webster dictionary, the medical definition of defect is “a lack or deficiency of something necessary for adequacy in form or function.” Another word that is used a lot when talking about this subject matter is test and testing. Based on the medical definition a test is “a diagnostic procedure for determining the presence or nature of a condition or disease or for revealing a change in function.” From this definition you can see how the word test is also used in medical vocabulary to see what is wrong with a patient so the doctors can determine what to do next. The last term that I want to explain briefly before continuing is one that people might get confused with, it is the word prevent. Although it might seem like an easy word people still confuse it with the act of curing someone. The dictionary without a doubt states that the word prevent means “to keep from happening or existing”
Response: 1 in 33 children are born with some kind of birth defect. While genetic testing and screening is suggested by doctors to women, it is not required. Studies show that many women are not searching for a defect because they want to abort, but they would rather like to prepare for how there life and child’s life will be with this genetic abnormality (7). Many early pregnancy testing are not harmful to the other or child because they usually involve blood tests or ultrasounds. Mothers begin to be susceptible to risk as they reach the later months of their pregnancy and are involved in the 15th-20th week of pregnancy. Amniocentesis is when a doctor received some of the amniotic fluid around the child. The fluid is sent to a lab so that the cells may grow for testing. This tests for spina bifida and other abnormalities
Turner syndrome is caused by the partial or complete loss of one X chromosome in females. Turner syndrome can only happen
What is Turner Syndrome? Turner Syndrome was named after Dr. Henry Turner who discovered it in 1938, but also referred to as Ullrich-Turner, Bonnevie-Ullrich-Turner, and Gonadal Dysgenesis. This syndrome occurs in 1 out of 200,000 females. Making it a rare syndrome that only 70,000 people in the whole world has. Turner syndrome is a lifelong condition. Most people live long and healthy lives, yet some are susceptible to numerous chronic conditions. Genes are passed on to a child from each parent, in structures called chromosomes. You have 23 pairs of chromosomes in each cell of your body. Each chromosome contains thousands of genes. Our genes determine how our body functions, what we look like and sometimes what diseases we will get. A female
total of 47 chromosomes. Those who suffer from Down Syndrome have intellectual disability and are usually marked by short stature, short, stocky arms and legs, flattened facial features, slanted eyes, and other symptoms that range in severity depending on the person. An example of a monosomy chromosomal abnormality would be Turner Syndrome. Turner Syndrome only occurs in women and is caused by monosomy X, which is an absence of that entire sex chromosome, leaving only 45 chromosomes. Women affected by Turner Syndrome usually have normal intelligence but are characterized by their short stature, loss of ovarian function, and sometimes a webbed neck or swelling of hands and feet. The second type of chromosomal abnormalities is structural abnormalities. These include abnormalities due to deletions, duplications, translocations, inversions, or rings. Deletions are when a part of a chromosome is either missing or deleted. An example of disorder caused by deletion is Wolf-Hirschhorn Syndrome which occurs due to partial deletion of the short arm of chromosome 4. Duplications occur when a portion of a
Amniocentesis is a procedure that is usually performed in the second trimester between 15 and 18 weeks of pregnancy. This procedure allows the physician to detect problems with the babies health. Chromosomal abnormalities such as Down Syndrome and Trisomy 18 can be detected with amniocentesis. This procedure will also detect lung maturity in the third trimester which determines if the babies lungs are mature enough should early delivery become necessary. It is offered to women who are 35 and above or if the woman has had a previous child or pregnancy with a birth defect.
It wasn’t until around third grade that I realized she was different. My best friend, Emily, whom I had known since I was five years old, had Turner Syndrome. We had multiple interests in common: we loved High School Musical, Wii games, and Harry Potter. Since I had known her for so long, I was accustomed to her unique personality and habits. However, our elementary school playground was often the most accessible for peers to spew judgemental remarks. Classmates loved to evoke any emotion out of Emily, from pure frustration to fear. She was an easy target, and I knew that it was my job to protect her at all costs. Being so young, I was unable to understand why others chose to tease her; she seemed to be remarkably similar to me. Even so, I