Chromosome Mutations Flashcards
1
Q
Trisomy 13
A
Patau Syndrome: Physical and mental retardation, half die before a month of age and rarely live beyond 3 years
2
Q
Trisomy 18
A
Edwards Syndrome: Physical and mental retardation; over half die before two months and rarely live beyond a few years
3
Q
Trisomy 21
A
Down Syndrome: Most common aneuploid; mental retardation, round face, broad toes and fingers
4
Q
X
A
Turner Syndrome
5
Q
XXX
A
Triplo-X
6
Q
XXY
A
Klinefelter Syndrome (Also XXXY and XXXXY)
7
Q
Numerical Mutations
A
Total number of chromosomes in a cell or organism changes
8
Q
Structural Mutations
A
Deletion, addition, or rearrangement of portions of chromosomes