The littlest things in one’s body can have the biggest impact on a person. A strong example are the very genetics that make a person up, such as the chromosomes that are in a karyotype.
Having one extra or having one less chromosome than the usual chromosome arrangement can change the entire genetic makeup of a person, such as physical features or internal issues with one’s body. There are many different diagnoses for many different chromosomal abnormalities, and these four are just a few of them. The first one is known as Down Syndrome, or Trisomy 21. This is when there is one more extra chromosome for Chromosome Pair 21. The symptoms that are associated with Down Syndrome include both external and internal features. These external features include a wide body shape with smaller facial features, such as the mouth and the ears. There is no cure for Down Syndrome since it has to do with the pure genetics of a person and unfortunately, there is no actual treatment for it. Scientists are still trying to deeper understand all the basics for the reasons and development of Down Syndrome.
However, there is a different kind of treatment to help with Down Syndrome, such as applying those affected into therapy and special education programs. These kinds of treatments should allow easier educational and physical transition for individuals affected by Down Syndrome in their everyday lives as they grow older. Another diagnosis formed due to abnormal chromosomes is Klinefelter’s Syndrome, where a male’s DNA consists of an extra X chromosome in Chromosome Pair 23 (XXY).
There are many symptoms that show throughout different stages in a man’s life when he has it, such as having speech delay and weak muscles as a baby. When it comes to teenagers or older boys, they are taller in height and the presence of puberty is very subtle. They even have emotional distinctions such as being really shy or having problems with learning or with expressing emotions. But once they grow older, they show the most common symptom of Klinefelter’s which is known as infertility, the inability to reproduce. These treatments include Testosterone Replacement Therapy, where the males can take testosterone as a patch on the skin or an injection due to the lack of production of testosterone within them. Other treatments include Fertility Treatments and Breast Tissue Removal, along with the usual educational support and physical therapy.
Turner Syndrome affects the complete opposite crowd of Klinefelter’s Syndrome. Turner Syndrome is when a female has only one X chromosome in Chromosome Pair 23. This symptoms include a webbed neck and a low hairline in the back of the head. They are also more likely to develop heart problems, kidney problems, and fertility problems just like Klinefelter’s Syndrome. Just like the previous syndromes, there is no cure for Turner Syndrome.
Also just like the previous syndromes, therapy is an option that can reduce the symptoms. There are different types of therapy such as Estrogen Replacement Therapy and Growth Hormone Therapy, which both help with the decline of growth in height and the decline in the production of estrogen. Finally, there is Williams Syndrome, also known as Monosomy 7 or Williams-Beuren syndrome.
This is a rare disorder that can cause many problems to both the mind and the body. The symptoms involve learning disabilities, having fears of specific things, being short in height, having speech delays, ADHD, being sensitive to loud noise and abnormalities regarding the kidney. Because it deals with the genetic makeup of a person, there is no cure for it. There are treatments that help with the symptoms of Williams Syndrome including the typical physical and speech therapy that’s recommended for almost every syndrome. Overall, there is no strict protocol for treatments due to the diversity of the symptoms an affected individual can possess.