Various Genetic Disorders Essay

2839 words - 11 pages

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 name of La
Maladie du Cri-du-Chat. The physical characteristics are evident in this disorder. There is a
round moon-face, a low birth weight and a transverse palmar crease. When infants are born, it is
their cry that stands out the most. It embodies a plaintive high-pitched wail, weak, and with a
hint of stridor that sounds like that of a cat (Valtine 1969 p.113). This cry is the result of small
vocal cords and a curved epiglottis. As these infants grow older their voice will eventually deepen
and become more normal. The chromosome deletion is part of the short arm of a B group
chromosome. It seems that the deletion comes about as a chance mishap, a break and then a loss
at anaphase (Valtine 1969 p.114). Sickle cell disease is another disorder but is not caused by the
deletion of a chromosome. Instead there is an abnormal type of hemoglobin S that is inherited as
an autosomal inherited trait. This disease produces chronic anemia, which may become life
threatening when hemolytic crises (the breakdown of redblood cells) or aplastic crises (bone
marrow fails to produce blood cells) occur (http://www.wcu.edu/library/online/index.htm). The
incidence of...

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