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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.
Translocation Down syndrome can be passed from parent to child, but this is rare. In these cases, the parent may have extra genetic material from chromosome 21 but no signs of Down syndrome ...
A child with Down syndrome. A prominent example of a genetically determined neurodevelopmental disorder is trisomy 21, also known as Down syndrome. This disorder usually results from an extra chromosome 21, [41] although in uncommon instances it is related to other chromosomal abnormalities such as translocation of the genetic material.
This is a list of major and frequently observed neurological disorders (e.g., Alzheimer's disease), symptoms (e.g., back pain), signs (e.g., aphasia) and syndromes (e.g., Aicardi syndrome). There is disagreement over the definitions and criteria used to delineate various disorders and whether some of these conditions should be classified as ...
Signs and symptoms depend on the specific type of defect. [3] Symptoms can vary from none to life-threatening. [7] When present, symptoms are variable and may include rapid breathing, bluish skin , poor weight gain, and feeling tired. [2] CHD does not cause chest pain. [2] Most congenital heart defects are not associated with other diseases. [3]
With October being Down Syndrome Awareness Month, the timing could not be more perfect.
Jordan's syndrome (JS) or PPP2R5D-related intellectual disability is a rare autosomal dominant neurodevelopmental disorder caused by de novo mutations in the PPP2R5D gene. [2] It is characterized by hypotonia, intellectual disability, and macrocephaly. [3] Children with JS may also have epilepsy or meet criteria for diagnosis with autism ...
Living among a small band of Neanderthals in what is now eastern Spain was a child, perhaps 6 years old, with Down syndrome, as shown in a remarkable fossil preserving traits in the inner ear ...