Down Syndrome (Trisomy 21 or Downs) Haley Strong.

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Presentation transcript:

Down Syndrome (Trisomy 21 or Downs) Haley Strong

General Info. most common chromosome disorder most common genetic disorder that causes mental retardation happens b/c the 21 chromosome has an extra - which is why it is known as Trisomy 21

Who can have it? You get downs from conception. It is a genetic disorder. Anybody capable of carrying a baby runs the risk of carrying a downs child.

How it occurs mom and dad both give 23 chromosomes each when conceiving=46 chromosomes in all the baby gets 23 chromosomes (passed from parents) sometimes an extra chromosome is passed along=47 chromosomes -a.k.a. nondisjunction which is the reasoning behind 95% of downs cases

Symptoms (Not all cases are known to have every symptom.) overly quiet less responsive to stimuli weak/floppy muscles flat face/ small head flat bridge on nose which is lower set small mouths - which is why there tongues stick out upward slanting eyes bright speckles on iris of eye misshapen ears rounded cheeks small, wide hands shorter than normal stature

Prognosis Comes with the likelihood of having/being: heart defects (30-50%) susceptible to infections developmenting Leukemia

There life w/out a heart defect: ~90% live to be teens age of death is ~50-55 y.o. modern med. treatment: antibiotics surgery for various problems special ed. programs --> finding them jobs and holding those jobs ONLY ONE report of a downs person that has conceived. - ~60% can conceive - ~50% chance that their child will have Downs

Dr. that identified Down Syndrome 1959 that Dr. Jerome Lejeune, a French physician, made the discovery that Down Syndrome Jerome Lejeune he stated --> chromosomal abnormality - Mongoloids at the time b/c they looked like ppl from Mongolia

Celebrities w/ Downs

Organizations Special Olympics of NC Triangle Down Syndrome Network Down Syndrome Association of Charlotte Orgs. vary from state to state, but they are easy to find out about.

References "History of Down Syndrome." Downsyndrome.com. Downsyndrome.com, 14 Jan Web. 4 Feb GARD. "Down Syndrome." Genetic and Rare Diseases Information Center. GARD, 8 June Web. 4 Feb