Kabuki syndrome
Kabuki syndrome is a rare genetic disorder with a range of characteristics including intellectual disability, distinctive facial features and skeletal abnormalities. The condition is also known as Niikawa-Kuroki syndrome and appears to be more ... [... more]
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Genes and genetics - related parents
A relationship between related people, such as siblings or cousins, is called consanguinity. Related parents are more likely than unrelated parents to have children with health problems or disorders. The closer the genetic relationship between ... [... more]
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Tay-Sachs disease
Tay-Sachs disease (TSD) is an inherited (genetic) condition common in Jews and French-Canadians. A mutated gene stops the body from producing an enzyme needed for proper brain functioning. This leads to paralysis and death, usually by the age of ... [... more]
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Genetic testing for inherited cancer
A predisposition to certain cancers can be inherited via altered genes. Genetic testing aims to detect a genetic alteration that might increase the chances of a person developing a particular cancer. This testing is available to some families ... [... more]
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Huntington's disease - genetics
Physical symptoms include twitching, lack of coordination and difficulties with speech and swallowing. Cognitive (thought-related) symptoms include short-term memory loss and concentration problems. Emotional symptoms include mood swings, apathy ... [... more]
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Cholesterol - genetic factors
Familial hypercholesterolaemia is an inherited condition characterised by higher than normal levels of blood cholesterol. Treatment includes changes to diet, regular exercise, avoiding smoking, and the use of cholesterol-lowering drugs. Other ... [... more]
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Down syndrome explained
People with Down syndrome have an extra chromosome in their genetic makeup. They also have common physical characteristics, including reduced intelligence and eyes with an upward and outward slant. The three forms of Down syndrome are Standard ... [... more]
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Tuberous sclerosis complex (TSC)
Tuberous sclerosis is a genetic disorder that affects various parts of the body to varying degrees of severity. Its common characteristic is the formation of tuber-like growths in the brain. There is no cure. Tuberous sclerosis is a genetic ... [... more]
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Cystic fibrosis - Better Health Channel.
Cystic fibrosis (CF) is a life threatening genetic disorder. It severely affects the lungs and digestive system. There is currently no cure; however, with improved medication and treatment to manage symptoms, life expectancy has been extended ... [... more]
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Genetic services in Victoria
Genetic services in Victoria cover diagnosis, screening and testing, counselling and ongoing management of individuals and families with particular birth defects and genetic disorders. Services available include maternal serum screening (MSS), ... [... more]
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Genes and genetics
Genes control growth, development and functioning. A genetic mutation means that a gene contains a fault that disrupts the gene message. Genetic mutations can cause a wide range of disorders. Sometimes having a faulty gene for a particular ... [... more]
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Genes and genetics - inheritance
Genes determine all physical characteristics in a person including gender (sex), blood type, eye colour and height. Many health conditions or diseases are also genetic. When a sperm fertilises an egg, their two sets of genes combine into a paired ... [... more]
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