Various Genetic Disorders

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Various Genetic Disorders Alterations in human chromosomes or the deletion of an important gene product are often due to a mutation, which can spring an abundant strand of genetic mutations and improper coding. Mutations can spring from deletion, duplication or inversion of a chromosome. This improper deletion is the factor that leads to complications and ultimately genetic disorders. Turner Syndrome and Cat-cry Syndrome are both alterations of chromosome structure due to deletion. In Turner Syndrome, there is a missing X chromosome and in the Cat-cry Syndrome chromosome-18 has been lost or deleted. Other genetic disorders that give rise to discussion are point mutations which include Sickle cell anemia, Maternal PKU and the genetic disorder of The D1 Trisomy syndrome. Turner Syndrome was described first by Turner in 1938 (Jack H. Hung 1989 p.45) and it was established that this disorder was due to the deletion of an X chromosome in 1959 by Ford, Jones, Polani, de Ameida and Briggs. The most predominant traits of those who have this disorder consist of being short, having neck webbing with a low hairline and having a widely spaced chest. Turner Syndrome disease is not a fatal disease as long as there is management of possible heart problems and ovarian dysfunction. Early support and counseling are the key in dealing with psychological problems that may arise such as infertility and potential hearing loss. Cat-cry Syndrome is another deletion disorder in which inhibitor survives quite well. Lejeune recognized this disorder in 1964 and he gave it the official nam... ... middle of paper ... ...d off the face of the planet, but can be somewhat predicted with the help of family trees and common knowledge of ancestors. Bibliography Kenneth Lyons Jones, M.D. 1988. Smiths Recognizable Patterns of Human Malformation pp.520-521 W. B. Saunders Company. G.H. Valentine, M B. 1969. The Chromosome Disorders pp. 113-115 pp. 103-106 Printed in Great Britain by The Whitefriars Press Ltd. London and Tonbridge. Jack H. Jung, M.D. 1989. Genetic syndromes in Communication Disorders pp. 45 PRO-ED Printed in the United States of America. Neil A Campbell, Lawrence G. Mitchell, Jane B. Reece. 1997. Biology concepts and connections. In The Human Genome pp. 238-239 The Benjamin/cummings Publishing Company. Arthur Metcalf. Sickle Cell Diesase. Accessed 4/20/99 through Dogpile. http://www.wcu.edu/library/online/index.htm)

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