Genetic Syndromes Flashcards

1
Q

Turner Syndrome

A

-When the baby only inherits one x chromosome

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2
Q

Effects of turner syndrome

A

-Testes or ovaries do not develop

-No gonads but develop otherwise normal female sex characteristics

-Infertility

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3
Q

Androgen Insensitivity Syndrome:

A

Caused by a genetic mutation which prevents normal functioning of androgen receptors

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4
Q

Effects of androgen insensitivity

A

-Develop testes but irresponsive to androgens, male and female sex organs fail to develop, female external genatalia

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5
Q

Persistent Mullerian Duct Syndrome:

A

the failure to produce mullerian inhibiting substance/absence of receptors for mullerian inhibiting substance

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6
Q

Effects of Persistent Mullerian Duct Syndrome

A

Male reproductive system develops normally

-MIS cannot defeminise-female reproductive system also develops

-Child has both sets of sex organs but may not function properly

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