GENETIC ABNORMALITY Flashcards

1
Q

DOWN SYNDROME

A

Trisomy 21

MC non-lethal trisomy

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2
Q

EDWARDS SYNDROME

A

Trisomy 18

“STRAWBERRY SHAPED” cranium

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3
Q

PATAU SYNDROME

A

Trisomy 13

holoprosencephaly

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4
Q

TURNER SYNDROME

A

45,X

ONLY monosomy compatible w/ life

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5
Q

KLINEFELTER SYNDROME

A

47, XXY

MC sex chromosome abnormality

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6
Q

CRI DU CHAT

A

MICRODELETION

abnormal laryngeal development with “cat-like: cry

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