Down syndrome- Tracing it to the extra DNA-

Article by Nilutpal Gogoi

The Down syndrome is also known as trisomy 21 or Down’s syndrome. A patient affected by Down syndrome suffers from acute abnormalities in body functioning which arises from the person’s abnormal body structure. The root cause of Down syndrome is the 21st chromosome (DNA). This dysfunction can occur due to the presence of just a portion of the chromosome or the entire genetic material. The Down syndrome symptoms were first documented in detail by the English physician, John Langdon Down, way back in 1866. Hence, it is in his name that the ailment is named. The chromosomal abnormalities insofar as its shape or number is concerned were clearly identified in the 1950s following the discovery of the special karyotype methods. It was in 1959 that the cause of Down syndrome was traced to the presence of the extra DNA. But it was only in the 21st century that the chromosome was labeled and the condition termed as trisomy 21. Thus we see that the medical detectives and researchers were unable to pin down the exact cause of Down syndrome till the 20th century. The Down syndrome was found to affect people in all the races. What is more, the Down syndrome was found to attack the women in their advanced years. Another significant aspect of Down syndrome that attracted the attention of the researchers was the rarity of its recurrence. Till the middle part of the last century, the common medical perception on Down syndrome was that it takes place due to several aspects that were basically inherited. Even then the intensive searches for these factors were eluding results. The fact that the Down syndrome was particularly noticed among the mothers after they reach an advanced stage led a school of medical thought to trace the cause of the dysfunction to some shock(s) undergone by the expecting mother. The commonly reported symptoms of Down syndrome are a facial layout that remains as it was during that person’s birth, and total impairment in the development of that person’s physical appearance. Besides, the Down syndrome affected child fails to have the learning capability, and have retardation besides below par cognitive aptitude. His/her social and emotional abilities are largely dependent on the mental retardation of the child affected by Down syndrome. The child’s mild IQ ranges from 50 to 70 while the moderate IQ ranges from 35 to 50. Those affected by Mosaic Down syndrome have IQ range that may go up by 10-30 points higher. The Down syndrome kids can also develop serious health problems like thyroid dysfunctions, sleep apnea (obstructive), recurring ear infections, gastroesophageal (reflux) disease, and heart defects that are congenital in nature. Mentionably, there are instances of people possessing the usual sets of DNA also suffering from the Down syndrome symptoms. The signs are enlarged tongue, speech impairment, shorter limbs, almond (shaped) eyes, and a single crease across one or both palms (simian crease). Depending on the child’s disability in the cognitive sphere,. It is of necessity that kids affected with Down syndrome are provided immediate medical attention. Despite the fact that many Down syndrome dysfunctions stays on for life, yet the patient can be taught to adjust with the prevailing physical conditions. For this, the parents or guardians of any child must always be attentive about any such abnormalities in their children. If any such signs are noticed, the physician must be immediately consulted, and the required medical screenings carried out. The initial tests pertain to the thyroid among others. The growing child can be provided vocational training The foremost thing to remember that Down syndrome patients require a homely environment to recuperate whatever he/she can.

Nilutpal Gogoi is a writer and a freelance journalist having more than 18 years of service in several audio-visual and print media reputed organizations in North East India. He has published one popular adventure book for children and has published more than 1000 articles for various sites, as such,,

  1. Javier

    I just can’t get euognh Julian pictures! He is adorable! Thank you to you and Noah’s Dad for this informative post. Although I already knew that there were 3 types of Ds, your concise explanation helped me to understand it better.

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