Essay Sample on Turner's Syndrome

I am writing this letter to inform you that, based on your child's Karyotype, we have discovered that she will be born with a genetic disorder known as Turner's syndrome. 

A disorder like this is not very common in the population, unfortunately it is still an ongoing error that occurs in many new offspring. Any baby that has Turner’s syndrome will be born as a female. This is because the child only has 1 X chromosome, and no other chromosomes that determine one’s sex. A healthy female would have 2 X chromosomes present in the chromosomes of their DNA. A male would have 1 X, and 1 Y chromosome each. There is no Y chromosome present in your baby’s karyotype, eliminating the possibility of a baby boy, meaning the sex or the gender of your baby will be female. 

Furthermore, this information is determined through an imaging process of chromosomes called a karyotype. A karyotype is a photograph image that portrays the set of chromosomes that someone has. In order to obtain this order, the chromosomes are extracted, then isolated, followed by being stained, and then finally they’re examined under a microscope for further judgment and/or pairing. In most human, chromosomes are ordered in pairs ranging from 1-23, with one pair being the sex chromosomes (X and Y). There are many possible variations that can occur in each pair. The chromosomes of the same characteristics are paired together. Although, there could always be an incomplete or an extra chromosome in a pair, which may lead to an error, and possibly nondisjunction. A karyotype is a great way to diagnose many genetic errors, although it can only go so far. Karyotypes are great for figuring out when there is a deletion, duplication, inversion, and Translocation. Deletion is when a piece of a chromosome is deleted out of the pair. Duplication is when a section of a chromosome appears two or more times in a row. Inversion is when a section of a chromosome is inverted. Additionally translocation is when a segment of one chromosome becomes attached to a different chromosome. They can also perform this test through amniocentesis. Amniocentesis is a procedure used to take out a sample of fluid for testing. This is the fluid that surrounds the fetus in a pregnant woman. Amniotic fluid is a clear, pale yellow fluid that: protects the fetus from injury, protects against infection. All of these errors may lead to nondisjunction which is the inability of the chromosomes to separate, during Anaphase 1 or 2, during division of sex cells. This produces daughter cells with abnormal numbers of chromosomes causing the offspring to have abnormalities. Only genetic diseases are identified through karyotypes, this means that not every potential disease or condition that a offspring has can be identified right away, before birth. 

Building on, a normal baby girl would have 2 X chromosomes, in your daughter’s case she only has 1 X chromosome present, now this means that your baby will have Turner’s syndrome. Now, Turner’s syndrome is a genetic condition that may or may not bring many serious complications to its carrier. This is a condition that only affects females and happens when the 1 X chromosome is partially or completely missing. Turner’s syndrome can be identified before birth, during childhood, or in early adolescence. Side effects of this condition include short height, failure of the ovaries to develop, and also heart defects. The signs and symptoms of Turner syndrome differ between girls and women who have the disorder. Signs and symptoms can be subtle and develop slowly over time, or they can be severe, such as heart defects. The presence of Turner syndrome may not be obvious in some girls, but in others, several physical features may emerge early. Girls with Turner's syndrome often have a normal level of intelligence, although some may have learning difficulties, particularly in a subject like Math. Many also have trouble with spatial skills, such as map reading and visual organizing. Girls with Turner's are also more likely to have hearing issues. The diagnosis of Turner’s syndrome in girls with minor indications and symptoms is sometimes also delayed until they are in their teen or young adult years. On the bright side, most girls/women with the condition can live healthy, independent lives with regular checkups and with appropriate care applied.