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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 the genetic disorder is inherited from one or both parents, it is also classified as a hereditary disease. Some disorders are caused by a mutation on the X chromosome and have X-linked inheritance. Very few disorders are inherited on the Y chromosome or mitochondrial DNA (due to their size). [3] There are well over 6,000 known genetic ...
A malformation is associated with a disorder of tissue development. [16] Malformations often occur in the first trimester. A dysplasia is a disorder at the organ level that is due to problems with tissue development. [16] Conditions also can arise after tissue is formed: A deformation is a condition arising from mechanical stress to normal ...
If both parents are carriers, a one in four chance exists with each pregnancy for an affected child. Genetic counseling and genetic testing are recommended for families who may be carriers of familial dysautonomia. [13] Worldwide, about 600 diagnoses have been recorded since discovery of the disease, with around 350 of them still living. [17]
Down syndrome or Down's syndrome, [12] also known as trisomy 21, is a genetic disorder caused by the presence of all or part of a third copy of chromosome 21. [3] It is usually associated with developmental delays, mild to moderate intellectual disability, and characteristic physical features.
As the mutation causing FAP is autosomal dominant, it can be inherited directly from either parent to a child. A genetic blood test of the APC gene exists that can determine whether it is present, and therefore can predict the possibility of FAP. Individuals at risk (due to family links or genetic testing) are usually offered routine monitoring ...
FAP is inherited in an autosomal dominant manner. [2] This means that the defective gene responsible for the disorder is located on an autosome (chromosome 18 is an autosome), and only one copy of the defective gene is sufficient to cause the disorder, when inherited from a parent who has the disorder. [citation needed]
The disorder can be associated with a number of psychological symptoms, including anxiety, depression, social phobia, and distress about body image. People who have this disorder may also experience discrimination, bullying, and name calling, especially when young. A multi-disciplinary team and parental support should include these issues. [43]