Down's syndrome


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Down's syndrome

(dounz)
n.
Variant of Down syndrome.

Down's syndrome

A major genetic disorder caused by the presence of an extra chromosome 21 (trisomy 21). People with Down's syndrome have oval, down-sloping eyelid openings, a large, protruding tongue and small ears. There is always some degree of learning difficulty, but this need not be severe and many people with Down's syndrome are able to engage in simple employment. Antenatal screening for Down's syndrome has been improved since the end of the 20th century. A quadruple-test screening algorithm for all pregnant women, that includes maternal serum alphafetoprotein, human chorionic gonadotropin, unconjugated oestriol (estriol) and inhibin A is now in use to determine whether pregnant women need be offered AMNIOCENTESIS or CHORIONIC VILLUS SAMPLING. Other factors such as maternal age and ultrasound identification of fetal abnormalities are also important. Full karyotyping after a positive screen test has recently been replaced by the rapid diagnostic procedures of fluorescence-in-situ hybridization (FISH) or PCR. (John Langdon Haydon Down, 1828–96, English physician).
References in periodicals archive ?
For this reason, optometrists and ophthalmologists tend to prescribe earlier for children with Down's syndrome because they are not going to grow out of their errors.
DOWN'S Syndrome Liverpool can be contacted via www.
For more information about Down's Syndrome log on to:
Professor Tony Holland - medical advisor to DSA - disagreed, saying: "In reality most people with Down's syndrome are capable of being as healthy (or unhealthy) as the rest of the population, providing they have access to the individual healthcare we all expect.
All my life I wanted a daughter and it was really heartbreaking to know Rebecca would be a Down's Syndrome baby.
Eventually, researchers may devise ways to counteract the genes that cause some Down's syndrome defects, Korenberg says.
The Down's Syndrome Association said the survey of more than 1,000 parents showed health professionals treated people with the condition as "second-class citizens".
Xenomics (New York City) is developing a urine DNA test for detecting Down's Syndrome that could provide pregnant women with a safer and quicker alternative to amniocentesis tests," the article states.
Dubai More than 1,500 people and 40 organisations participated in the World Down's Syndrome Day Walkathon at Dubai Mall yesterday evening.
NOne to two babies are born with Down's syndrome every day in the UK alone.