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They come in all shapes and sizes. Some walk, some slither, some fly and some swim. Humans are blessed to share the planet with just over 2.1 million recognized species of animals. And scientists ...
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.
When a pedigree shows a condition appearing in a 50:50 ratio between men and women, it is considered autosomal. When the condition predominantly affects males in the pedigree, it is considered x-linked. [6] Some examples of dominant traits include male baldness, astigmatism, and dwarfism. Some examples of recessive traits include small eyes ...
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 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 ...
Genetic disorders are diseases that are caused by a single allele of a gene and are inherited in families. These include Huntington's disease, cystic fibrosis or Duchenne muscular dystrophy. Cystic fibrosis, for example, is caused by mutations in a single gene called CFTR and is inherited as a recessive trait. [16]
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 ]
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