| Every year, one child in every 800 to
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| | affected with the physical and/or
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| 1,000 births will be born with a
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| | developmentally delayed characteristics
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| condition known as Down syndrome. Down
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| | of those born with the other two forms of
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| syndrome is a disorder in which the child
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| | Down syndrome.
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| has extra genetic material. This extra
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| | Common Physical Traits
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| genetic material causes the baby to
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| | Babies with Down syndrome are usually
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| develop differently in the womb. This
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| | diagnosed at birth or shortly thereafter.
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| abnormal development occurs during the
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| | Because Down syndrome affects a child
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| early stages of cell division, soon after
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| | physically, there will be certain
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| conception.
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| | features that an alert doctor or nurse
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| There is no known reason for Down
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| | will pick up on. Most children with the
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| syndrome or a cure for it.
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| | syndrome will have some or all of these
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| The disorder came by its name when an
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| | traits.
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| English physician, John Langdon Down,
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| | Among the most common physical
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| published a description of the
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| | characteristics are:
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| characteristics of a person with the
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| | - Low muscle tone
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| condition in 1886. Since Dr. Down was the
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| | - Small nose and flat nasal bridge
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| first person to give the syndrome a name,
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| | - An upward slant to the eyes (almond
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| the disorder is known as Down syndrome.
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| | shaped)
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| The Common Forms of Downs
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| | - Small skin folds on the inner corner of
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| There are three distinct forms of Down
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| | the eyes
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| syndrome. The most common form is Trisomy
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| | - Tongue large for size of child's mouth
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| 21. This is when a child has an extra
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| | - Small, sometimes abnormally shaped ears
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| chromosome 21.
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| | - A single crease across the center of
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| Instead of having 46 chromosomes in each
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| | the palm
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| cell (23 from the father and 23 from the
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| | - Fifth finger, the pinky, has only one
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| mother), he has 47. Ninety-five percent
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| | crease instead of two
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| of children born with Down syndrome have
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| | - Larger than normal space between the
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| Trisomy 21.
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| | large and second toe
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| Translocation is another form of Down
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| | - Joints are hyper flexible, able to
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| syndrome and makes up 3 to 4% of the
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| | extend greater than average
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| population of people with the disorder.
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| | These physical traits are characteristic
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| Translocation occurs when part of
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| | of a baby with Down syndrome, but in
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| chromosome 21 breaks off and attaches to
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| | order to determine if a child does indeed
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| another chromosome, changing the genetic
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| | have the disorder, a chromosome analysis
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| makeup. In this form of Down syndrome,
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| | will need to be performed.
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| each cell has the normal 46 chromosomes,
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| | This is done by taking blood from your
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| but there is extra genetic material from
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| | baby and the analysis will be done in a
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| the broken off chromosome.
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| | laboratory. Your doctor will notify you
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| The third and final form is called
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| | of the results.
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| Mosaicism, and is the rarest form of Down
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| | By Jane Orville
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| syndrome, occurring in only 2% of all
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| | Jane Orville is the mother of a 17 year
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| cases. Mosaicism happens when some of the
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| | old Daughter with Down Syndrome and has
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| cells in the forming embryo have 46
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| | spent years researching and compiling all
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| chromosomes, and some have 47. Thus, the
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| | the wisdom she has gained into a simple
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| alternating pattern gives it the name
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| | guide to assist parents deal with the
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| Mosaicism.
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| | concerns of raising a child with Down
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| People with Mosaicism may not be as
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| | Syndrome.
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