DOWN'S SYNDROME

   

Symptoms: Mental retardation; blue; facies
Special signs: Down's facies; hypertelorism; hypotonia; congenital heart disease; characteristic facies (flat facial profile, Simian crease on palm, abundant neck skin, umbilical hernia, hypotonia, gap between 2nd and big toe.
Special investigations:  Chromosome karyotyping with trisomy-21; translocation D/G; translocation 21/22; translocation 21/21

SHORT DESCRIPTION:
A disease caused by non dysjunction at meiosis. It is a chromosomal abnormality. It is associated with congenital heart anomalies such as septal defects. Its immune system which is abnormal predisposes to infections and there is a higher risk of acute leukemia and also Alzheimer's disease in later life. There is also a tendency to have intestinal stenosis.

 

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