Down's syndrome

(dounz)

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 Full karyotyping after a positive screen test has recently been replaced by the rapid diagnostic procedures of fluorescence-in-situ hybridization (FISH) or PCR.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).

Collins Dictionary of Medicine © Robert M. Youngson 2004, 2005

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References in periodicals archive

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Down's syndrome is characterised by associated intellectual challenges.

Down's syndrome

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Down's Syndrome Scotland Awareness Week (March 18-24) includes the UN recognised World Down's Syndrome Day today (Wednesday).

Tackling stigmas to gain inclusion; Kaiya Marjoribanks

The plan to form the branch comes after Parent Inclusion Network (PIN) organised a lunch involving people with Down's Syndrome and their families in the autumn, with DSS family support service manager Jo Hughes also playing a big part.

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DSA chief executive, Carol Boys, told OT that the organisation was urging optometrists to retain their retinoscopy skills and safeguard the health of people with Down's syndrome by using the necessary equipment to make informed assessments.

Appeal for retinoscopy skill retention

"Having Down's syndrome, there were a couple of things about Laurie that were a little different, such as her speech and movement - but as well as using sign language, she's speaking and is on her feet now.

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Worldwide, one out of 980 babies is born with Down's syndrome, but in the UAE the chances are one in 630, Rebecca said.

Down's syndrome conference under way

And some people believe the amount of babies aborted every year because of Down's syndrome is far higher than many doctors' records show.

Life without my girl with Down's syndrome is utterly unthinkable; Statistics suggest more than 90 percent of women who discover they are carrying a Down''s baby will abort. Here a mother of a little girl with Down's syndrome explains how much joy and happiness she brings...and how abortion would have been unimaginable

Fundraising took place during Down's Syndrome Awareness Week and it was the first time Childwall and Woolton Children's Centre had taken part in anything on this scale.

Charity events 'cash in' WOOLTON Fundraiser in aid of Down's Syndrome

KEY WORDS: Down's syndrome, Hypothyroidism, Thyroid function tests.

HYPOTHYROIDISM IN CHILDREN WITH DOWN'S SYNDROME: A HOSPITAL BASED STUDY

Yesterday marked Down's Syndrome Awareness Day and to help, Laura Smith, 29, recruited her son Harry's nursery to get behind a fundraising day.

'It's nothing to be down about' - mum; Parents raise awareness of syndrome at son's nursery