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First Aid Genetics > AD or AR? > Flashcards

AD or AR? Flashcards

(36 cards)

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1
Q

AD or AR: Albinism

A

AR

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2
Q

AD or AR: Familial hypercholesterolemia

A

AD

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3
Q

AD or AR: Fabry disease

A
  • X-linked recessive disorder
  • “Oblivious Female Will Often Give Her Boys Her x-Linked Disorders”
  • Female carriers can be variably affected
    depending on the percentage inactivation of the X chromosome carrying the mutant vs normal gene.
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4
Q

AD or AR: glycogen storage diseases

A

AR

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5
Q

AD or AR: Hereditary hemorrhagic telangiectasia

A

AD

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6
Q

AD or AR: Hereditary spherocytosis

A

AD

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7
Q

AD or AR: Hunter Syndrome

A
  • X-linked recessive disorder
  • “Oblivious Female Will Often Give Her Boys Her x-Linked Disorders”
  • Female carriers can be variably affected
    depending on the percentage inactivation of the X chromosome carrying the mutant vs normal gene.
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8
Q

AD or AR: Huntington disease

A

AD

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9
Q

AD or AR: Kartagener syndrome

A

AR

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10
Q

AD or AR: Hemophilia

A and B

A
  • X-linked recessive disorder
  • “Oblivious Female Will Often Give Her Boys Her x-Linked Disorders”
  • Female carriers can be variably affected
    depending on the percentage inactivation of the X chromosome carrying the mutant vs normal gene.
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11
Q

AD or AR: Bruton agammaglobulinemia

A
  • X-linked recessive disorder
  • “Oblivious Female Will Often Give Her Boys Her x-Linked Disorders”
  • Female carriers can be variably affected
    depending on the percentage inactivation of the X chromosome carrying the mutant vs normal gene.
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12
Q

AD or AR: mucopolysaccharidoses (except Hunter syndrome)

A

AR

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13
Q

AD or AR: phenylketonuria

A

AR

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14
Q

AD or AR: Multiple endocrine neoplasias (MEN)

A

AD

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15
Q

AD or AR: Neurofibromatosis type 1 (von Recklinghausen disease)

A

AD

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16
Q

AD or AR: Wiskott-Aldrich syndrome

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A
  • X-linked recessive disorder
  • “Oblivious Female Will Often Give Her Boys Her x-Linked Disorders”
  • Female carriers can be variably affected
    depending on the percentage inactivation of the X chromosome carrying the mutant vs normal gene.
17
Q

AD or AR: sickle cell anemia

18
Q

AD or AR: Ocular albinism

Study These Flashcards
A
  • X-linked recessive disorder
  • “Oblivious Female Will Often Give Her Boys Her x-Linked Disorders”
  • Female carriers can be variably affected
    depending on the percentage inactivation of the X chromosome carrying the mutant vs normal gene.
19
Q

AD or AR: von Hippel-Lindau disease

20
Q

AD or AR: sphingolipidoses (except Fabry disease)

21
Q

AD or AR: Familial adenomatous polyposis

22
Q

AD or AR: PCKD

Study These Flashcards
A

BOTH! There is an AD form and an AR form

23
Q

AD or AR: thalassemias

24
Q

AD or AR: Achondroplasia

25
AD or AR: Duchenne | (and Becker) muscular dystrophy.
- X-linked recessive disorder - "Oblivious Female Will Often Give Her Boys Her x-Linked Disorders" - Female carriers can be variably affected depending on the percentage inactivation of the X chromosome carrying the mutant vs normal gene.
26
AD or AR: Cystic Fibrosis
AR
27
AD or AR: Tuberous sclerosis
AD
28
AD or AR: Neurofibromatosis type 2
AD
29
AD or AR: Ornithine transcarbamylase deficiency
- X-linked recessive disorder - "Oblivious Female Will Often Give Her Boys Her x-Linked Disorders" - Female carriers can be variably affected depending on the percentage inactivation of the X chromosome carrying the mutant vs normal gene.
30
AD or AR: hemochromatosis
AR
31
AD or AR: Marfan syndrome
AD
32
AD or AR: G6PD Deficiency
- X-linked recessive disorder - "Oblivious Female Will Often Give Her Boys Her x-Linked Disorders" - Female carriers can be variably affected depending on the percentage inactivation of the X chromosome carrying the mutant vs normal gene.
33
AD or AR: Li-Fraumeni syndrome
AD
34
AD or AR: Lesch-Nyhan syndrome
- X-linked recessive disorder - "Oblivious Female Will Often Give Her Boys Her x-Linked Disorders" - Female carriers can be variably affected depending on the percentage inactivation of the X chromosome carrying the mutant vs normal gene.
35
AD or AR: Wilson disease
AR
36
AD or AR: Fragile X Syndrome
X-linked Dominant Inheritance

First Aid Genetics (2 decks)

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