Genetic Disorders Flashcards

1
Q

Types of mutations

A

Addition/insertion

Subtraction/deletion

Substitution

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2
Q

How can mutations occur?

A

Meiosis 1- homologous pairs fail to separate

Meiosis 2- sister chromatids fail to separate

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3
Q

Karyotype

A

Picture of chromosomes risked during mitosis

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4
Q

Down syndrome

A

Trisomy 21

When the 21 chromosome pair had 3 chromosomes

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5
Q

Turner syndrome

A

The individual is healthy but they only have 1 sex chromosome.

Always girls

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6
Q

Klinefelter syndrome

A

Trisomy 23

Males who have an extra X chromosome (XXY) it is the absence of ovation function which leads to unusual physical traits

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7
Q

Thonspodition

A

When order is switched

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