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Trisomy 21. Down syndrome (also known by the karyotype 47,XX,+21 for females and 47,XY,+21 for males) [98] is mostly caused by a failure of the 21st chromosome to separate during egg or sperm development, known as nondisjunction. [91] As a result, a sperm or egg cell is produced with an extra copy of chromosome 21; this cell thus has 24 ...
Genetics of Down syndrome. 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 ...
The obsolete medical terms Mongolian idiocy and Mongolism referred to a specific type of mental deficiency, associated with the genetic disorder now known as Down syndrome. The obsolete term for a person with this syndrome was called a Mongolian idiot. In the 21st century, these terms are no longer used as medical terminology, deemed an ...
John Langdon Down. John Langdon Haydon Down (18 November 1828 – 7 October 1896) was a British physician best known for his description of the genetic condition now known as Down syndrome, which he originally classified in 1862. He is also noted for his work in social medicine and as a pioneer in the care of mentally disabled patients.
Down syndrome is a genetic condition in which people are born with an extra copy of chromosome 21. This extra copy affects the development of the body and brain, causing a range of physical and mental impairments for the individual. Fragile X syndrome, most frequent among males, is thought to cause autism and intellectual disability.
Neurodevelopmental disorders are a group of mental conditions affecting the development of the nervous system, which includes the brain and spinal cord.According to the American Psychiatric Association Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition, published in 2013, these conditions generally appear in early childhood, usually before children start school, and can ...
Research has found that there is a correlation between advanced paternal age and risk of birth defects such as limb anomalies, syndromes involving multiple systems, and Down syndrome. [74] [35] [93] Recent studies have concluded that 5-9% of Down syndrome cases are due to paternal effects, but these findings are controversial. [74] [75] [35] [94]
Intellectual disability (ID), also known as general learning disability (in the United Kingdom [3]) and formerly mental retardation (in the United States [4]), [5] [6] is a generalized neurodevelopmental disorder characterized by significant impairment in intellectual and adaptive functioning that is first apparent during childhood.