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

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2
Q

Trisomy 18

A

Edwards Syndrome: Physical and mental retardation; over half die before two months and rarely live beyond a few years

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3
Q

Trisomy 21

A

Down Syndrome: Most common aneuploid; mental retardation, round face, broad toes and fingers

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4
Q

X

A

Turner Syndrome

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5
Q

XXX

A

Triplo-X

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6
Q

XXY

A

Klinefelter Syndrome (Also XXXY and XXXXY)

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7
Q

Numerical Mutations

A

Total number of chromosomes in a cell or organism changes

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8
Q

Structural Mutations

A

Deletion, addition, or rearrangement of portions of chromosomes

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