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Flashcards in Down Syndrome Deck (5):
1

What is the etiology of Down syndrome?

Idiopathic

2

What is the patho of Down syndrome (3 types)

Error during cell division during meiosis-> trisomy on chromosome 21
Robertsonian translocation -> trisomy 21
Ageing oocyte -> chromosome 21

3

What are mnft of Down syndrome?

Growth failure
Accompanying congenital heart defects
Risk of Alzheimer's
Fat pad on back of neck
Flat face profile

4

How is Down syndrome diagnosed?

Blood tests
Mothers age
Ultrasound - fetal nuchal translucency
Amniocentesis
Percutaneous umbilical blood sampling

5

Is Down syndrome the most common chromosomal disorder?

Yes