Chromosome Abnormalities Flashcards

1
Q

Down Syndrome

A

Trisomy 21
Autosomal aneuploidy
Facial dysmorphologies
IQ

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2
Q

Patau Syndrome

A
Trisomy 13
Autosomal aneuploidy
Dismorphic features
Mental retardation
Life expectancy
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3
Q

Edwards Syndrome

A

Trisomy 18
Autosomal aneuploidy
Severe developmental problems
Life expectancy

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4
Q

Turner Syndrome

A

Monosomy XO
Females, infertile
Life expectancy normal
Intelligence normal

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5
Q

Klinefelter Syndrome

A

Trisomy XXY

Male, infertile

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