Tatianna

Tatianna Msackyi Down syndrome Down syndrome is a genetic disorder that affects chromosome 21. It is the most common genetic disorder caused by chromosome abnormality. Though this disorder is fairly common with about 1 out of every 800 – 1000 babies affected.

Down syndrome, or also known as Trisomy 21, affects chromosome 21. The chromosome undergoes a nondisjunction or addition. 92% - 95% of all cases of Down syndrome (DS) undergo nondisjunction in which a whole chromosome is added to a pair. Though there is still a 4% - 6% that it could be caused by translocation of chromosome 21. This occurs in which the third copy of this chromosome is attached to another. Therefore, all together there would be 47 chromosomes instead of 46. Unlike other genetic disorders, Trisomy 21 only affects one autosome.In result of having Trisomy 21,there would be characteristics[1] which include a flat face, small widespread nose, vast tongue, mottled skin, short hands, stubby fingers abnormally shaped ears and upward slanted eyes with folds of skin in the corner.
 * Karyotype of Down syndrome, male ||

Unfortunately, the symptoms and medical problems influenced by Down syndrome can be very critical. Due to having this disorder, Down syndrome, the risk of having medical significant problems increase. These problems include moderate to severe retardation, respiratory infections, gastrointestinal tract obstruction, leukemia, heart defects, hearing loss, hypothyroidism, and various eye abnormalities, just to name a few. Patients with Down syndrome develop more slowly than their peers and in some cases, they do not develop the skills at all.[2] Thus making it harder for them to walk, talk or even take care of themselves, than it would be for the normal person. Statistic shows that only about half of the people diagnosed with Down syndrome live up to 50 years of age[3].
 * Down syndrome patient ||

There are some factors that contribute to this disorder. There is a strong relation between maternal age and the risk of having a Down syndrome child.

**Relation between Maternal Age and the Estimated Risk of Down syndrome **
 * **Age ** ||  **Risk of Down syndrome **  ||
 * **20 ** ||  **1/1667 **  ||
 * **25 ** ||  **1/1250 **  ||
 * **<span style="font-family: "Times New Roman","serif";">30 ** ||  **<span style="color: #4f6228; font-family: "Times New Roman","serif";">1/925 **  ||
 * **<span style="font-family: "Times New Roman","serif";">35 ** ||  **<span style="color: #4f6228; font-family: "Times New Roman","serif";">1/385 **  ||
 * **<span style="font-family: "Times New Roman","serif";">40 ** ||  **<span style="color: #4f6228; font-family: "Times New Roman","serif";">1/106 **  ||
 * **<span style="font-family: "Times New Roman","serif";">45 ** ||  **<span style="color: #4f6228; font-family: "Times New Roman","serif";">1/30 **  ||
 * **<span style="font-family: "Times New Roman","serif";">49 ** ||  **<span style="color: #4f6228; font-family: "Times New Roman","serif";">1/11 **  ||

<span style="color: #5a5ae7; font-family: "Times New Roman","serif";">From the table above you can assume that as the maternal age increased the risk of Down syndrome increased as well.<span style="font-family: "Times New Roman","serif"; font-size: 14.67px;">[4] However, there are tests to tell whether you have a baby with DS or not. For example, a pregnant woman can undergo screening tests to analyze whether the mother is more likely carrying a baby with Down syndrome. The Triple Screen and the Alpha-Fetoprotein Plus are more fequent ways to check for tis disorder. This is a good way for the elements in the blood to be measured and looked at. Another alternative would be an ultrasound. Doctor are allowed to examine the fetus when it is still inside the womb for physical signs of DS. If a mother chooses not to undergo any of those tests, the doctor could still be able to distinct physical features of the baby once it is born to tell if indeed he/she does have Down syndrome. <span style="color: #5a5ae7; font-family: "Times New Roman","serif";"> Though there has been no cure found for the disorder, people diagnosed with Down syndrome are still very much capable of living a healthy life. Also, physical therapy and speech therapy can help them develop like other normal people, today. Plus, the environment of the diagnosed could help them have a happier fulfilling life. <span style="font-family: "Times New Roman","serif"; font-size: 16px;"> Reference 1 <span style="font-family: "Times New Roman","serif";">[] <span style="font-family: "Times New Roman","serif";">Reference 2 <span style="font-family: "Times New Roman","serif";">[] <span style="font-family: "Times New Roman","serif";">Reference 3 __<span style="font-family: "Times New Roman","serif";">Waley & Wong’s Nursing Care of Infants and Children (Fifth Edition) __ <span style="font-family: "Times New Roman","serif";">Author: Donna L. Wong <span style="font-family: "Times New Roman","serif";">Reference 4 <span style="font-family: "Times New Roman","serif";">Hermin Wright (my mother)

<span style="font-family: "Times New Roman","serif"; font-size: 13.33px;">[1] <span style="font-family: "Times New Roman","serif";"> DS was previously known by the unacceptable name “monogolism” because of the strange facial characteristics that resemble those of the Mongol race. <span style="font-family: "Times New Roman","serif"; font-size: 13.33px;">[2] <span style="font-family: "Times New Roman","serif";"> 1 in 5 children with DS play a musical instrument. For children older than ten, that number doubles. One out of five children with DS sings in a choir or vocal group, for children older than ten, it is every one in three. <span style="font-family: "Times New Roman","serif"; font-size: 13.33px;">[3] <span style="font-family: "Times New Roman","serif";"> Only Trisomy 21 is compatible with life. Other trisomies like trisomies 13 and 18 only have a 5% chance of surviving longer than one year. <span style="font-family: "Times New Roman","serif"; font-size: 13.33px;">[4] <span style="font-family: "Times New Roman","serif";"> 90% of DS cases have the additional chromosome from the mother’s egg, not the father’s sperm.