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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 p45 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 p113 This cry is
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