Cytogenetics Flashcards

1
Q

Down syndrome

A

Trisomy 13

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

Edward

A

Trisomy 18

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

Patau

A

Triosmy 13

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

Turner

A

Some 45 X, 45X/46XX, or 45X/46XY

Webbed neck

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

Klinefelter

A

47XXY
Taller, long arms and legs, infertility, low testosterone
Sometimes nothing

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

Trisomy X

A

47XXX
Benign symptoms, sterility, menstrustion,
Each X adds more disability

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

XX males

A

SRY gene on X from dad

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

XY females

A

Y chromsome w/o SRY from dad

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

Cri du chat

A

Short arm of 5 deletion

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

Wolf-hirschhorn syndrome

A

Short arm of 4

How well did you know this?
1
Not at all
2
3
4
5
Perfectly