down syndrome (trisomy 21 or downs) haley strong
DESCRIPTION
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.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
http://www.youtube.com/watch?v=EA0qxhR2oOk
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 lifew/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
• 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
CharlotteOrgs. vary from state to state, but they
are easy to find out about.
References • "History of Down Syndrome." Downsyndrome.com.
Downsyndrome.com, 14 Jan. 2011. Web. 4 Feb. 2013. <http://downsyndrome.com/history-of-down-syndrome/>.
• GARD. "Down Syndrome." Genetic and Rare Diseases Information Center. GARD, 8 June 2012. Web. 4 Feb. 2013. <https://rarediseases.info.nih.gov/GARD/QnASelected.aspx?diseaseID=10247>.