Down's+Syndrome

toc 1359475810 Definition: Trisomy 21 is when a child has three copies of chromosome 21, these children have mental retardation and have distinctive facial features, smaller brains, an often other physical abnormalities such as heart defects.p62 Chapter 3 Pages 61-62 Related Pages: Part of Prenatal Development, Includes Trisomy 21, Most common in Babies, Confused with Mental Retardation

Down syndrome is a genetic disorder that causes lifelong mental retardation, developmental delays and other problems. Down syndrome varies in severity, so developmental problems range from moderate to serious.

Examples:
[image:http://ts1.mm.bing.net/images/thumbnail.aspx?q=4867581436887100&id=14530c4a5752589c74c363d08a462bc0&url=http%3a%2f%2fblogs.reuters.com%2fuknews%2ffiles%2f2008%2f11%2fdown.jpg width="292" height="300" [[image:http://www.parenting.com/sites/parenting.com/files/imagecache/gallery_image/parenting_port/is/isabella17mo.JPG width="320" height="241"]]

[|downsyndromeoflouisville.org]

Analogies:
The extra chromosome in down syndrome is like a factory worker on an assembly line who works twice as fast as the other workers. this will create too much of some materials and not enough of others, the entire production is affected.

Mnemonics:
Down Syndrome Features: "My **CHILD HAS PROBLEM **!":
 * C **ongenital heart disease/ **C **ataracts
 * H **ypotonia/ **H **ypothyroidism
 * I **ncure 5th finger/ **I **ncreased gap between 1st and 2nd toe
 * L **<span style="background-color: #ffffff; font-family: X,verdana,helvetica,geneva,X; font-size: 12px;">eukemia risk x2/ **<span style="background-color: #ffffff; font-family: X,verdana,helvetica,geneva,X; font-size: 12px;">L **<span style="background-color: #ffffff; font-family: X,verdana,helvetica,geneva,X; font-size: 12px;">ung problem
 * <span style="background-color: #ffffff; font-family: X,verdana,helvetica,geneva,X; font-size: 12px;">D **<span style="background-color: #ffffff; font-family: X,verdana,helvetica,geneva,X; font-size: 12px;">uodenal atresia/ **<span style="background-color: #ffffff; font-family: X,verdana,helvetica,geneva,X; font-size: 12px;">D **<span style="background-color: #ffffff; font-family: X,verdana,helvetica,geneva,X; font-size: 12px;">elayed development
 * <span style="background-color: #ffffff; font-family: X,verdana,helvetica,geneva,X; font-size: 12px;">H **<span style="background-color: #ffffff; font-family: X,verdana,helvetica,geneva,X; font-size: 12px;">irshsprung's disease/ **<span style="background-color: #ffffff; font-family: X,verdana,helvetica,geneva,X; font-size: 12px;">H **<span style="background-color: #ffffff; font-family: X,verdana,helvetica,geneva,X; font-size: 12px;">earing loss
 * <span style="background-color: #ffffff; font-family: X,verdana,helvetica,geneva,X; font-size: 12px;">A **<span style="background-color: #ffffff; font-family: X,verdana,helvetica,geneva,X; font-size: 12px;">lzheimer's disease/ **<span style="background-color: #ffffff; font-family: X,verdana,helvetica,geneva,X; font-size: 12px;">A **<span style="background-color: #ffffff; font-family: X,verdana,helvetica,geneva,X; font-size: 12px;">lantoaxial instability
 * <span style="background-color: #ffffff; font-family: X,verdana,helvetica,geneva,X; font-size: 12px;">S **<span style="background-color: #ffffff; font-family: X,verdana,helvetica,geneva,X; font-size: 12px;">quint/ **<span style="background-color: #ffffff; font-family: X,verdana,helvetica,geneva,X; font-size: 12px;">S **<span style="background-color: #ffffff; font-family: X,verdana,helvetica,geneva,X; font-size: 12px;">hort neck
 * <span style="background-color: #ffffff; font-family: X,verdana,helvetica,geneva,X; font-size: 12px;">P **<span style="background-color: #ffffff; font-family: X,verdana,helvetica,geneva,X; font-size: 12px;">rotruding tongue/ **<span style="background-color: #ffffff; font-family: X,verdana,helvetica,geneva,X; font-size: 12px;">P **<span style="background-color: #ffffff; font-family: X,verdana,helvetica,geneva,X; font-size: 12px;">alm crease
 * <span style="background-color: #ffffff; font-family: X,verdana,helvetica,geneva,X; font-size: 12px;">R **<span style="background-color: #ffffff; font-family: X,verdana,helvetica,geneva,X; font-size: 12px;">ound face/ **<span style="background-color: #ffffff; font-family: X,verdana,helvetica,geneva,X; font-size: 12px;">R **<span style="background-color: #ffffff; font-family: X,verdana,helvetica,geneva,X; font-size: 12px;">olling eye (nystagmus)
 * <span style="background-color: #ffffff; font-family: X,verdana,helvetica,geneva,X; font-size: 12px;">O **<span style="background-color: #ffffff; font-family: X,verdana,helvetica,geneva,X; font-size: 12px;">cciput flat/ **<span style="background-color: #ffffff; font-family: X,verdana,helvetica,geneva,X; font-size: 12px;">O **<span style="background-color: #ffffff; font-family: X,verdana,helvetica,geneva,X; font-size: 12px;">blique eye fissure
 * <span style="background-color: #ffffff; font-family: X,verdana,helvetica,geneva,X; font-size: 12px;">B **<span style="background-color: #ffffff; font-family: X,verdana,helvetica,geneva,X; font-size: 12px;">rushfield spot/ **<span style="background-color: #ffffff; font-family: X,verdana,helvetica,geneva,X; font-size: 12px;">B **<span style="background-color: #ffffff; font-family: X,verdana,helvetica,geneva,X; font-size: 12px;">rachycephaly
 * <span style="background-color: #ffffff; font-family: X,verdana,helvetica,geneva,X; font-size: 12px;">L **<span style="background-color: #ffffff; font-family: X,verdana,helvetica,geneva,X; font-size: 12px;">ow nasal bridge/ **<span style="background-color: #ffffff; font-family: X,verdana,helvetica,geneva,X; font-size: 12px;">L **<span style="background-color: #ffffff; font-family: X,verdana,helvetica,geneva,X; font-size: 12px;">anguage problem
 * <span style="background-color: #ffffff; font-family: X,verdana,helvetica,geneva,X; font-size: 12px;">E **<span style="background-color: #ffffff; font-family: X,verdana,helvetica,geneva,X; font-size: 12px;">picanthic fold/ **<span style="background-color: #ffffff; font-family: X,verdana,helvetica,geneva,X; font-size: 12px;">E **<span style="background-color: #ffffff; font-family: X,verdana,helvetica,geneva,X; font-size: 12px;">ar folded
 * <span style="background-color: #ffffff; font-family: X,verdana,helvetica,geneva,X; font-size: 12px;">M **<span style="background-color: #ffffff; font-family: X,verdana,helvetica,geneva,X; font-size: 12px;">ental retardation/ **<span style="background-color: #ffffff; font-family: X,verdana,helvetica,geneva,X; font-size: 12px;">M **<span style="background-color: #ffffff; font-family: X,verdana,helvetica,geneva,X; font-size: 12px;">yoclonus

<span style="background-color: #ffffff; font-family: X,verdana,helvetica,geneva,X; font-size: 12px;">Down Syndrome Pathology:


 * <span style="background-color: #ffffff; font-family: X,verdana,helvetica,geneva,X; font-size: 12px;">DOWN **<span style="background-color: #ffffff; font-family: X,verdana,helvetica,geneva,X; font-size: 12px;">:


 * <span style="background-color: #ffffff; font-family: X,verdana,helvetica,geneva,X; font-size: 12px;">D **<span style="background-color: #ffffff; font-family: X,verdana,helvetica,geneva,X; font-size: 12px;">ecreased alpha-fetoprotein and unconjugated estriol (maternal)


 * <span style="background-color: #ffffff; font-family: X,verdana,helvetica,geneva,X; font-size: 12px;">O **<span style="background-color: #ffffff; font-family: X,verdana,helvetica,geneva,X; font-size: 12px;">ne extra chromosome twenty-one


 * <span style="background-color: #ffffff; font-family: X,verdana,helvetica,geneva,X; font-size: 12px;">W **<span style="background-color: #ffffff; font-family: X,verdana,helvetica,geneva,X; font-size: 12px;">omen of advanced age


 * <span style="background-color: #ffffff; font-family: X,verdana,helvetica,geneva,X; font-size: 12px;">N **<span style="background-color: #ffffff; font-family: X,verdana,helvetica,geneva,X; font-size: 12px;">ondisjunction during maternal meiosis

In the News:
<span style="font-family: arial,helvetica,sans-serif; font-size: 13px;">World Down Syndrome Day is celebrated on the 21st day of the third month of year to symbolize a third copy of the 21st chromosome in Down syndrome. This year was especially exciting as is it the first year that the date is officially recognized by the United Nations! Thank you to all who joined the global celebration and decided to //Do Something Extra// to honor those with an extra 21st chromosome this World Down Syndrome Day. []

Over-Expression of a Protein Responsible for Neuronal Damage in Down's Syndrome Sufferers @http://www.sciencedaily.com/releases/2012/02/120210133245.htm

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media type="youtube" key="-tELnB0GNhY" height="313" width="561" The video up above describes: How parents cope with down syndrome, and how to raise a baby with down syndrome.

[|New Blood Test for Down's Syndrome]

[] "Until this year, only pregnant women 35 and older were routinely tested to see if their fetuses had the extra chromosome that causes Down syndrome. As a result many couples were given the diagnosis only at birth. But under a [|new recommendation] from the American College of Obstetricians and Gynecologists, doctors have begun to offer a new, safer screening procedure to all pregnant women, regardless of age."