Down syndrome Flashcards
1
Q
What is the most common cause of chromosomal abnormalities?
A
Non-dysjunction (94%)
2
Q
What percentage of chromosomal abnormalities is due to mosaicism?
A
Mosaicism (2%)
3
Q
What percentage of chromosomal abnormalities is due to Robertsonian translocation?
A
Robertsonian translocation (4%)
4
Q
Most common cardiac abnormality in down syndrome
A
VSD
5
Q
A
6
Q
Most common cause of mental retardation
A
Down syndrome
7
Q
Majority cause of death in infancy & early childhood
A
Cardiac problems
8
Q
In DS increased
A
NT,hcG,Inhibin-A
9
Q
In DS decreased
A
PAPP-A,uE3,MSAFP
10
Q
cri-du chart syndrome
A
5p-(partial deletion of short arm of chromosome 5)
11
Q
Largest category of mandelian disorder
A
Autosomal recessive
12
Q
In x-linked recessive transmission
A
Grandfather-Mother-Son
13
Q
A
