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Down syndrome or Down's syndrome, also known as trisomy 21, is a genetic disorder caused by the presence of all or part of a third copy of chromosome 21. It is usually associated with developmental delays, mild to moderate intellectual disability , and characteristic physical features.
Normal human Karyotype. Down syndrome is a chromosomal abnormality characterized by the presence of an extra copy of genetic material on chromosome 21, either in whole ( trisomy 21) or part (such as due to translocations ). The effects of the extra copy varies greatly from individual to individual, depending on the extent of the extra copy ...
A World Down Syndrome Day celebration in Brazil. World Down Syndrome Day (WDSD) is marked each year on March 21, beginning in 2007. The 21st day of March (the 3rd month of the year) was selected to signify the uniqueness of the triplication of the 21st chromosome which causes Down syndrome.
Down syndrome research. Research of Down syndrome-related genes is based on studying the genes located on chromosome 21. In general, this leads to an overexpression of the genes. [1] [2] Understanding the genes involved may help to target medical treatment to individuals with Down syndrome. It is estimated that chromosome 21 contains 200 to 250 ...
Down syndrome is a genetic disorder caused by the presence of all or part of a third copy of chromosome 21. [1] It is typically associated with developmental delays, characteristic physical features, and mild to moderate intellectual disability. [2]
Tall poppy syndrome. In Australia and New Zealand, tall poppy syndrome refers to successful people being criticised. This occurs when their peers believe they are too successful, or are bragging about their success. [1] [2] Intense scrutiny and criticism of such a person is termed as "cutting down the tall poppy". [3]
Cornelia de Lange syndrome. Cornelia de Lange syndrome ( CdLS) is a genetic disorder. People with Cornelia de Lange syndrome experience a range of physical, cognitive, and medical challenges ranging from mild to severe. Cornelia de Lange syndrome has a widely varied phenotype, meaning people with the syndrome have varied features and challenges.
Leigh syndrome. Leigh syndrome (also called Leigh disease and subacute necrotizing encephalomyelopathy) is an inherited neurometabolic disorder that affects the central nervous system. It is named after Archibald Denis Leigh, a British neuropsychiatrist who first described the condition in 1951. [2]
Acute respiratory distress syndrome ( ARDS) is a type of respiratory failure characterized by rapid onset of widespread inflammation in the lungs. [1] Symptoms include shortness of breath (dyspnea), rapid breathing (tachypnea), and bluish skin coloration (cyanosis). [1] For those who survive, a decreased quality of life is common.
Munchausen syndrome [1] Specialty. Psychology , Psychiatry. Factitious disorder imposed on self, also known as Munchausen syndrome, is a factitious disorder in which those affected feign or induce disease, illness, injury, abuse, or psychological trauma to draw attention, sympathy, or reassurance to themselves.