Discuss on the the most common genetic disorders in humans.
Discuss on the the most common genetic disorders in humans.
May 18, 2021 Comments Off on Discuss on the the most common genetic disorders in humans. Uncategorized Assignment-helpDiscuss on the the most common genetic disorders in humans. Down syndrome results when there is abnormal cell division with chromosome 21. This can be a partial or full extra copy. Most individuals with down syndrome have an extra copy of chromosome 21 (Regaieg, Kermarrec, & Sahli, 2020). Down syndrome is characterized by learning disabilities, cognitive deficits, memory impairment, speech and language delays, and impaired gait (Regaieg, Kermarrec, & Sahli, 2020). The average IQ of an individual with down syndrome is 50, where someone without down syndrome will have an average IQ of around 100 (Channell et al., 2019). Some physical traits of down syndrome include a small chin, slanted eyes, poor muscle tone, flat nasal bridge, small mouth, and large tongue (Asim et al., 2015). Risk factors for down syndrome mainly focus on maternal and paternal factors including age, diet, lifestyle, and environmental factors (Coppedè, 2016). Ethical considerations may include parents terminating the pregnancy due to the down syndrome diagnosis antepartum. Testing for this could cause stress, anxiety, and effect relationships. References Asim, A., Kumar, A., Muthuswamy, S. Shalu, J. (2015). Down syndrome: An insight of the disease. Journal of Biomed Science 22 (41). https://doi.org/10.1186/s12929-015-0138-y (Links to an external site.) Channell, M. M., Hahn, L. J., Rosser, T. C., Hamilton, D., Frank-Crawford, M. A., Capone, G. T., & Sherman, S. L. (2019). Characteristics associated with autism spectrum disorder risk in individuals with down syndrome. Journal of Autism & Developmental Disorders, 49(9), 3543–3556. https://doi-org./10.1007/s10803-019-04074-1 (Links to an external site.) Coppedè, F. (2016). Risk factors for down syndrome. Archives of Toxicology, 90(12), 2917–2929. https://doi-org/10.1007/s00204-016-1843- (Links to an external site.) Regaieg, G., Kermarrec, G., & Sahli, S. (2020). Designed game situations enhance fundamental movement skills in children with Down syndrome. Journal of Intellectual Disability Research, 64(4), 271–279. https://doi-org./10.1111/jir.12717 (Links to an external site.) Melissa Post : The body has rod liked structures, chromosomes, which reside in the nucleus. The nucleus has 46 chromosomes, divided into 23 pair that are from each parent. The pathophysiology of Down Syndrome stems from a difference in the amount of chromosome 21 in the DNA (Perkins, 2017). In Down Syndrome, individuals have an extra copy (full or partial) of chromosome 21. The extra chromosome causes changes in the body. The only way to determines the type of Down Syndrome, is to look at the actual chromosome. Common signs and attributes of patients with Down Syndrome are speech and language delays, physical abnormalities, and learning disabilities (Perkins, 2017). The risk factors for the inheritance of