Cytogenetics Flashcards
1
Q
Down syndrome
A
Trisomy 13
2
Q
Edward
A
Trisomy 18
3
Q
Patau
A
Triosmy 13
4
Q
Turner
A
Some 45 X, 45X/46XX, or 45X/46XY
Webbed neck
5
Q
Klinefelter
A
47XXY
Taller, long arms and legs, infertility, low testosterone
Sometimes nothing
6
Q
Trisomy X
A
47XXX
Benign symptoms, sterility, menstrustion,
Each X adds more disability
7
Q
XX males
A
SRY gene on X from dad
8
Q
XY females
A
Y chromsome w/o SRY from dad
9
Q
Cri du chat
A
Short arm of 5 deletion
10
Q
Wolf-hirschhorn syndrome
A
Short arm of 4