Memorize Genetic Abnormalities Flashcards

1
Q

Most common non-lethal trisomy

A

Down syndrome

Trisomy 21

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2
Q

Strawberry shaped skull

A

Edwards syndrome

Trisomy 18

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3
Q

Holoprosencephaly

A

Patau syndrome

Trisomy 13

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4
Q

Only monosomy compatible with life

A

Turner syndrome

45, X

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5
Q

Most common sex chromosome abnormality

A

Klinefelter syndrome

47, XXY

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6
Q

Microdeletion

Abnormal larybgeal development with cat-like cry

A

Cri-du-chat

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