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These genetic disorders of bone and cartilage are typically manifested as abnormal bone shape, poor growth or lack of growth, bowing of the limbs to the side – front legs are more likely to be affected, and spinal malformations. The disorder leaves the cat with a full-size body, but disproportionately short and thick legs.
The following is a list of genetic disorders and if known, type of mutation and for the chromosome involved. Although the parlance "disease-causing gene" is common, it is the occurrence of an abnormality in the parents that causes the impairment to develop within the child. There are over 6,000 known genetic disorders in humans.
The high level of similarity among the metabolisms of mammals allows many of these feline diseases to be diagnosed using genetic tests that were originally developed for use in humans, as well as the use of cats in the study of the human diseases. [5] [6] An example of a mutation that is shared among all felines, including the big cats, is a ...
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There are well over 6,000 known genetic disorders, [4] and new genetic disorders are constantly being described in medical literature. [5] More than 600 genetic disorders are treatable. [ 6 ] Around 1 in 50 people are affected by a known single-gene disorder, while around 1 in 263 are affected by a chromosomal disorder . [ 7 ]
The genotype is commonly mixed up with the phenotype which describes the result of both the genetic and the environmental factors giving the observed expression (e.g. blue eyes, hair color, or various hereditary diseases). A simple example to illustrate genotype as distinct from phenotype is the flower colour in pea plants (see Gregor Mendel).
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An example of this is one of the milder forms of Klinefelter syndrome, called 46,XY/47,XXY mosaic wherein some of the patient's cells contain XY chromosomes, and some contain XXY chromosomes. The 46/47 annotation indicates that the XY cells have the normal number of 46 total chromosomes, and the XXY cells have a total of 47 chromosomes.