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Trisomy 21
Physical Symptoms Excess skin at the nape of the neck flattened nose Separated joints between the bones of the skull (sutures) single crease in the palm of the hand Small ears Small mouth Upward slanting eyes Wide, short hands with short fingers White spots on the colored part of the eye (Brushfield spots)
Karyotype
Quality of life
Information Down syndrome is a genetic condition in which a person has 47 chromosomes instead of the usual 46. Down syndrome occurs when there is an extra copy of chromosome 21. This form of Down syndrome is called Trisomy 21. The extra chromosome causes problems with the way the body and brain develop. children with down syndrome have a very specific look and may have Impulsive behavior, Poor judgment, Short attention span, Slow learning problems. Their head may be smaller than normal and abnormally shaped. For example, the head may be round with a flat area on the back. The inner corner of the eyes may be rounded instead of pointed.
Probability of inheritance Most cases of Down syndrome are not inherited. When the condition is caused by trisomy 21, the chromosomal abnormality occurs as a random event during the formation of reproductive cells. The abnormality usually occurs in egg cells, but it occasionally occurs in sperm cells. An error in cell division called nondisjunction results in a reproductive cell with an abnormal number of chromosomes. However, Translocation Down syndrome can be inherited. Also when woman get older they have greater chances of giving birth to children with down syndromee.
Treatments Medications can be used to treat certain conditions that occur in someone with Down syndrome. ,but ,there is no medicine that will cure the disorder. Counseling and Support are used to treat down syndrome as well. Some medical conditions seen in people with Down syndrome require surgery
Quality of Life Individuals with Down syndrome tend to have a lower than average cognitive ability, often ranging from mild to moderate developmental disabilities. some people with the disorder develope serious mental disability. The incidence of Down syndrome is estimated at 1 per 800 to 1,000 births, although these statistics are heavily influenced by older mothers. Other factors may also influence the disorder
Sources: A service of the U.S National Library of Medicine. "Genetics Home Reference." Down Syndrome. Available from http://ghr.nlm.nih.gov/condition=downsyndrome. Internet; accessed 9 November 2009. Google Health. "Down Syndrome." Available from https://health.google.com/health/ref/Down+syndrome. Internet; accessed 11 November 2009. Bird, G. and S. Thomas (2002). "Providing effective speech and language therapy for children with Down syndrome in mainstream settings: A case example". Down Syndrome News and Update 2 (1): 30–31. Also, Kumin, Libby (1998). "Comprehensive speech and language treatment for infants, toddlers, and children with Down syndrome". in Hassold, T.J.and D. Patterson. Down Syndrome: A Promising Future, Together. New York: Wiley-Liss. found 2 drugs that work in mouse models of Down syndrome – one that improves cognition and one that reduces the effects of Alzheimer’s)
Breakthrough There have not been any crucial breakthroughs for down syndrome recently but one article says that a standford down syndrome researcher found two drugs that work in mouse models of Down syndrome and that improve cognition and reduces the effects of Alzheimer.
