Down Syndrome Flashcards
1
Q
What is the etiology of Down syndrome?
A
Idiopathic
2
Q
What is the patho of Down syndrome (3 types)
A
Error during cell division during meiosis-> trisomy on chromosome 21
Robertsonian translocation -> trisomy 21
Ageing oocyte -> chromosome 21
3
Q
What are mnft of Down syndrome?
A
Growth failure Accompanying congenital heart defects Risk of Alzheimer's Fat pad on back of neck Flat face profile
4
Q
How is Down syndrome diagnosed?
A
Blood tests Mothers age Ultrasound - fetal nuchal translucency Amniocentesis Percutaneous umbilical blood sampling
5
Q
Is Down syndrome the most common chromosomal disorder?
A
Yes
