Essay Sample on Trisomy 21

Introduction

These passage has been highlighted to mark the 50th anniversary regarding the discovery of trisomy 21. The passage has reviewed the present, past and future research in regard to the treatment of this Down syndrome. The passage has analyzed the present status of Trisomy 21 looking at the present hypothesis for the pathogenesis of the disorder which is gene-dosage. The passage has also discussed the historical review of Trisomy 21. The historical review has looked at clinical description, chromosomal basis Phenotype-genotype correlation among others. Lastly, the passage has discussed what the future holds in regard to treatment of Trisomy 21.

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What is interesting about this item is the present hypothesis in regard to this disorder. The passage states that the most captivating hypothesis for the pathogenesis of Trisomy 21 is basically in the gene-dosage hypothesis. It indicates that all key changes are as a result of the presence within the genome of an additional copy of chromosome 21 and these genes are gotten within. Hence, the immediate result of the overexpression of specific genes is the stimulation of certain mechanisms which are responsible for recognized clinical abnormalities. The passage further states that the expectation is that particular gene dosage changes will be connected to particular phenotypic anomalies.

While reading the passage there are some areas that have proved so confusing to the reader. The chromosomal basis is rather confusing. The passage indicate that until mod 20th century, the Trisomy 21 cause remained unknown. Nevertheless, its presence in all races, the connection of its occurrence with increasing maternal age, and its extraordinary occurrence in siblings had already been observed. In 1932 a Dutch ophthalmologist had made a suggestion that the likelihood that trisomy 21 might be as a result of chromosomal abnormality. Even after the study of chromosomes on the testicular sample was carried out in 1950 by Penrose, the end result was that neither aneuploidy nor triploidy was the cause. It's confusing then how even after then study the cause of Trisomy 21 was never identified.

The other question that this part of the text raise is in regard to the future treatment of Trisomy 21 and how effective is the modern way of treating this disorder. Are there more research that have continuously been carried to identify the major cause of this disorder?

The passage relate to the scientific post in that it is a detailed research and analysis regarding the future, past and present research and treatment in regards to Down syndrome. The passage has analyzed the present status of Trisomy 21 looking at the present hypothesis for the pathogenesis of the disorder which is gene-dosage. The passage has also discussed the historical review of Trisomy 21. The historical review has looked at clinical description, chromosomal basis Phenotype-genotype correlation among others.

The passage relate to materials covered in class in various ways. First, the text has covered the historical review of Trisomy 21. The various groups that Trisomy 21 research teams have already recognized candidates' genes that tare likely in creation of particular Down syndrome features.

Conclusion

Confusing areas of the lecture were clarified after reading the text. The passage has analyzed the present status of Trisomy 21 looking at the present hypothesis for the pathogenesis of the disorder which is gene-dosage. The passage has also discussed the historical review of Trisomy 21. The historical review has looked at clinical description, chromosomal basis Phenotype-genotype correlation among other