X-linked Recessive Disorders Flashcards

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1
Q

What patterns of inheritance do X-linked recessive disorders carry?

A

MALES affected, females are carriers. If any females in the past had something then it is NOT x-linked recessive.

Associated with ENZYME DEFICIENCIES.

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2
Q

Hemophilia A/B

A

X-linked recessive

Factor 8 and 9 enzyme deficiencies

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3
Q

G6PD

A

X-linked recessive

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4
Q

Chronic Granulomatous Disease

A

X-linked recessive

Enzyme deficiency of breaking down bacterial cells inside neutrophils

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5
Q

Duchenne Muscular Dystrophy

A

X-linked recessive, Enzyme deficiency

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6
Q

Nephrogenic DI

A

X-linked recessive, Enzyme deficiency

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7
Q

Retinitis Pigmentosa

A

X-linked recessive, Enzyme deficiency

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8
Q

Androgen Insensitivity

A

X-linked recessive, Enzyme deficiency

Phenotypically female, but genetically male

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9
Q

Wiskott Aldrich Syndrome

A

X-linked recessive, Enzyme deficiency

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10
Q

Hunter syndrome

A

X-linked recessive, Enzyme deficiency

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11
Q

For x-linked recessive disorders what are:

  1. changes of having an affected male child
  2. changes of having and affected child
A

Males
50% will be affected
50% will NOT be affected

Females
50% will be carriers
50% will NOT be carriers

Children
25% will be carriers
25% will have the disease
50% will be NORMAL

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