Down Syndrome Flashcards
How common is Down Syndrome?
1 in every 700 live births
What are risk factors for Down Syndrome?
Advancing maternal and paternal age
What error happens in Down Syndrome?
Error in cell division during meiosis, resulting in trisomy of chromosome 21
What is a Robertsonian translocation
Rare form of Down syndrome in which the long arm of another chromosome (often 14 or 22) connects to the normal long arm of chromosome 21, making a person have 46 chromosomes but have trisomy 21
What is Trisomy 21
an extra copy of chromosome 21
At what age does the risk become to rise?
Age of 30, becomes 1 in 25 births at 45 years old
What are physical features of someone with Down syndrome
Protruding tongue, small mouth Low-set ears, small nose Small, square head Epicanthal eyefolds Upward slanting eyes A single Simian crease in the palm Muscular hypotonia short stubby fingers excessive space between the big toe and 2 toe Short stature Congenital heart defects (often VSD) Intellectual impairment
Are children with Down syndrome at a greater risk of developing acute leukemia?
Yes, 10 to 20 times more
What other disease is a person with Down syndrome more at risk of?
Alzheimer disease
What are prenatal screening tests?
measure maternal serum levels of alpha-fetoprotein, human chorionic gonadotropin (hCG)
What are other type of tests?
ultrasonography
What is the current standard for determining the presence of Down syndrome in the fetus?
Chromosome analysis using chorionic villus sampling, amniocentesis, and percutaneous umbilical blood sampling
What are they at a high risk of
acute leukemia
What is the treatment for Downs
depends on the individual, early intervention to teach skills as fully as possible
