Flashcards in Down Syndrome Deck (5):
What is the etiology of Down syndrome?
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
What are mnft of Down syndrome?
Accompanying congenital heart defects
Risk of Alzheimer's
Fat pad on back of neck
Flat face profile
How is Down syndrome diagnosed?
Ultrasound - fetal nuchal translucency
Percutaneous umbilical blood sampling