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Down syndrome is a genetic disorder and the most common autosomal chromosome abnormality in humans, where extra genetic material from chromosome 21 is transferred to a newly formed embryo. By examining the karyotype, doctors can diagnose Down syndrome. Down Syndrome Definition. This extra genetic material causes the developmental changes and physical features of Down syndrome. Now you know that Down syndrome is caused by a … Nondisjunction results in an embryo with three copies of chromosome 21 instead of the usual two. People with Down syndrome have mild to moderate mental retardation, short stature, and a flattened facial profile. We believe that people with Down syndrome should be included in the work of organisations at all levels, so are looking for new ways to make this more accessible. Merriman, A. Beccles, UK: The Down’s Syndrome Association. Definition of Down syndrome : a congenital condition characterized especially by developmental delays, usually mild to moderate impairment in cognitive functioning, short stature, upward slanting eyes, a flattened nasal bridge, broad hands with short fingers, decreased muscle tone, and by trisomy of the human chromosome numbered 21 This type of Down syndrome, which accounts for 95% of cases, is called trisomy 21. In the most common type of Down syndrome, trisomy 21, the condition occurs randomly and isn’t inherited. Typically, the nucleus of each cell contains 23 pairs of chromosomes, half of which are inherited from each parent. Still, many physicians are not fully informed about advising their patients about the incidences of Down syndrome, advancements in diagnosis, and the protocols for care and treatment of babies born with Down syndrome. ©1996-2020 MedicineNet, Inc. All rights reserved. These tests do not tell you for sure whether your fetus has Down syndrome; they only provide a probability. It is usually associated with physical growth delays, mild to moderate intellectual disability, and characteristic facial features. Baltimore, MD: Brookes Publishing. Down syndrome is usually caused by an error in cell division called “nondisjunction.” Nondisjunction results in an embryo with three copies of chromosome 21 instead of the usual two. It was first described in 1866 by Dr. John L. H. Down (1828–1896), an English physician. Due to advances in medical technology, individuals with Down syndrome are living longer than ever before. Down syndrome is named for the English physician John Langdon Down, who characterized the condition, but did not have it. The age of the mother does not seem to be linked to the risk of translocation. A birth defect that allows a person to have eyes that look swollen, fingers that are a little meatier than usual, and they might have difficulties learning. home/medterms medical dictionary a-z list / down syndrome definition. As the embryo develops, the extra chromosome is replicated in every cell of the body. Down syndrome is a condition or a syndrome, not a disease. Babies with Down Syndrome: A New Parents’ Guide (Third Edition). Skallerup, S. No one gets Down syndrome later in life. People with Down syndrome may also be born with various health concerns such as heart defects or digestive abnormalities, as … Down syndrome isn’t the same across the … By definition, Down syndrome is a genetic condition whereby an individual has a surplus of DNA material, says Mary Pipan, MD, a behavioral pediatrician and director of … This additional genetic material alters the course of development and causes the characteristics associated with Down syndrome. 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