Please enable JavaScript.
Coggle requires JavaScript to display documents.
Down Syndrome, Genetic details - Coggle Diagram
Down Syndrome
Complications (Mayoclinic staff, 2018b)
-
-
-
-
-
-
-
-
-
-
-
-
-
Common Findings (Jorde, 2019)
-
- Distinct appearance - low nasal bridge - epicanthal folds - protruding tongue - flat low set ears - Hypotonia (poor muscle tone) - Short stature
-
-
-
-
Symptoms similar to Alzheimer disease by age 40, thought to be caused due to one of the genes that causes Alzheimer's disease being located on Chromosome 21
-
(Mayoclinic staff, 2018b)
-
-
-
-
Broad, short hands with a single crease in the palm (Simian Crease)
-
-
-
-
Diagnostic tests (Jorde, 2019)
Amniocentesis
test conducted at 16 weeks gestation where a small amount of amniotic fluid is withdrawn and tested for chromosomal abnormalities. Risk of fetal loss is about 1/500 higher than the background loss rate.
-
-
-
-
-
Causative and Risk factors (Jorde, 2019)
-
-
-
-
What is Down Syndrome
Down Syndrome or trisomy 21 is the most common genetic chromosomal disorder and is characterized by trisomy of the twenty-first chromosome (Jorde, 2019) (mayoclinic staff, 2018b).
-
-
Pathophysiological etiology (Jorde, 2019)(Mayoclinic staff, 2018b)
- 97% of cases are the result of nondisjunction during the formation of one of the parents gametes or early embryonic development.
- 90-95% of cases are due to nondisjunction in the formation of the mothers egg cell.
- nondisjunction in the father's sperm account for the remaining 5-10% of cases.
- 3% of cases are due to translocation.
- 1-3% of Down Syndrome cases are known to be mosaics.
- Down Syndrome occurs in 1 in 800 live births.
-
-
