Atypical Chromosomes Flashcards

1
Q

What is Klientelter Syndrome?

A

A genetic condition in males characterized by an extra X chromosome (XXY)

Occurs in about 1 in 750 births

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2
Q

What are common features of Klientelter Syndrome?

A
  • Learning difficulties
  • Reduced fertility or infertility
  • Less body hair

Also associated with small testes due to insufficient testosterone

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3
Q

What psychiatric disturbances are associated with Klientelter Syndrome?

A

Some patients may exhibit psychiatric disturbances

Evaluation often includes MRI scans showing smaller frontal and temporal lobes

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4
Q

How can Klientelter Syndrome be diagnosed?

A

It can be diagnosed prenatally

Treatments such as testosterone supplements may improve male sexual characteristics

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5
Q

What is Turner Syndrome?

A

A genetic condition in females characterized by having only one complete X chromosome (XO)

Occurs in about 1 in 2200 births

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6
Q

What are common features of Turner Syndrome?

A
  • Short stature
  • No menstrual cycle
  • Facial differences
  • Social immaturity

Can lead to miscarriage if it occurs at conception

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7
Q

What treatments have been studied for Turner Syndrome?

A

Estrogen therapy has been researched

Girls with TS given estrogen between ages 8.5-12 years showed earlier and greater breast development

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8
Q

True or False: Individuals with Turner Syndrome generally have normal cognitive development.

A

False

Turner Syndrome may lead to developmental effects and social immaturity

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9
Q

Fill in the blank: Klientelter Syndrome is associated with an extra _______ chromosome.

A

X

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10
Q

Fill in the blank: Turner Syndrome is characterized by the absence of a second complete _______ chromosome.

A

X

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