Down syndrome, trisomy 21, genetic disorder, physical growth, moderate intellectual disability, facial features, patients, adult patient, IQ, frequency, symptoms, natural selection, evolution, Finches, non-disjunction, neutral mutations, harmful mutations, treatment
Down syndrome is also referred to as trisomy 21 is a genetic disorder that occurs due to the presence of all or some of the third copy of chromosome 21 (Head et al., 2016). The disorder is characterized by delays in physical growth, moderate intellectual disability, and characteristic facial features. Patients with Down syndrome have a lower IQ than the average but vary with the individual. An adult patient with the disorder has an IQ of 50 which is equal to that of an eight-year-old child. This disorder is a lifelong condition. It is recommended that as soon as one is suspected to have the disorder, they seek the necessary care as soon as possible. This will make a difference in helping the individual have a meaningful life.
[...] Increased bone density is also a kind of beneficial mutation (Lynch et al., 2016). VIII. Harmful Mutations Mutations that have adverse effects on an organism that they occur in are called harmful mutations. Changes taking place in the organisms are most likely to result in negative effects. Rapid changes in the DNA of a gene cause the protein to function abnormally or not function at all. Harmful mutations cause genetic disorders such as Down syndrome and cancer (Guo et al., 2017). IX. [...]
[...] The treatment of Down syndrome starts in early childhood. A child will need a team of medical specialists to help them develop skills as required. Some of the team members that are required are primary care physicians who monitor the child's growth and development and provide vaccinations and medical advice, speech therapist, an occupational therapist to help with motor skills development, physical therapist, behavioral therapist and medical subspecialists. The quality of life of Down syndrome patients has improved significantly with the life expectancy increasing from 10 years in the 1960s to over 54 years currently (Ram & Chinen, 2011). [...]
[...] Clinical & Experimental Immunology, 164(1), pp.9-16. Webster, A. and Schuh, M Mechanisms of aneuploidy in human eggs. Trends in cell biology, pp.55-68. Williams, G.C Adaptation and natural selection: A critique of some current evolutionary thought (Vol. 61). Princeton university press. [...]
[...] If the screening tests show symptoms of the baby having Down syndrome, a diagnostic test is performed. Diagnostic testing requires that samples of genetic material are removed and checked for traces of chromosome 21. Procedures that are used in the extraction of the genetic material are amniocentesis, Chorionic Villus Sampling (CVS) and Percutaneous Umbilical Blood Sampling (PUBS). The amniocentesis involves taking a sample of the amniotic fluid that is tested for the extra chromosome. It is done between the 14th and 18th week of pregnancy. [...]
[...] The disjunction of chromosome 21 during meiosis causes Down syndrome. The disjunction occurs during the formation of ova or spermatozoa causing an ovum or sperm with 22 chromosomes lacking chromosome 21 and another with 24 chromosomes have an extra chromosome 21. When a normal ovum or sperm unites with one that has the extra copy of chromosome 21, there is the zygote is trisomy 21. V. Effects of Spontaneous and Induced Mutations Spontaneous mutations are caused by several factors for example errors in DNA replication, transposable genetic elements, and spontaneous lesions. [...]
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