Inheritance Flashcards

1
Q

Alport syndrome

A

X Linked Dominant

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2
Q

Fabry Disease

A

X Linked Recessive

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3
Q

Menke’s Disease

A

X Linked Recessive

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4
Q

Becker Muscular Dystrophy

A

X Linked Recessive

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5
Q

Fragile X syndrome

A

X Linked Dominant

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6
Q

Hemophilia B

A

X Linked Recessive

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7
Q

Kartagener syndrome

A

Autosomal Recessive

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8
Q

Hypophosphatemic Rickets

A

X Linked Dominant

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9
Q

Acute Intermittent Porphyria

A

Autosomal Dominant

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10
Q

MELAS

A

Mitochondrial Inheritance

Mitochondrial myopathy, Encephalopathy, lactic acidosis, and stroke like episodes

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11
Q

Pyruvate Dehydrogenase Complex Deficiency

A

X Linked Recessive

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12
Q

Hereditary spherocytosis

A

Autosomal Dominant

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13
Q

Ocular Albinism

A

X Linked Recessive

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14
Q

Mucopolysaccharides (one exception what is it)

A
Autosomal Recessive
(exception: Hunter syndrome- X linked recessive)
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15
Q

Hyper IgM syndrome

A

X Linked Recessive

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16
Q

Phenylketonuria

A

Autosomal Recessive

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17
Q

Albinism

A

Autosomal Recessive

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18
Q

Duchenne Muscular dystrophy

A

X Linked Recessive

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19
Q

Hemophilia A

A

X Linked Recessive

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20
Q

Sideroblastic anemia

A

ALA synthase gene defect

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21
Q

Lesch-Nyhan Syndrome

A

X Linked Recessive

22
Q

Cystic Fibrosis

A

Autosomal Recessive

23
Q

von Hippel-Lindau disease

A

Autosomal Dominant

24
Q

Ornithine Transcarbamylase Deficiency

A

X Linked Recessive

25
Q

Wilson Disease

A

Autosomal Recessive

26
Q

SCID (most common cause)

A

X Linked Recessive

27
Q

Bruton Agammaglobulinemia

A

X Linked Recessive

28
Q

Chronic Granulomatous disease

A

X Linked Recessive

29
Q

Thalassemias

A

Autosomal Recessive

30
Q

Familial Hypercholesterolemia

A

Autosomal Dominant

31
Q

Hunter Syndrome

A

X Linked Recessive

32
Q

Hemochromatosis

A

Autosomal Recessive

33
Q

Hereditary hemorrhagic telangiectasia

A

Autosomal Dominant

34
Q

Sphingolipidoses (one exception what is it)

A
Autosomal Recessive
(exception: Fabry Disease- X linked recessive)
35
Q

Neurofibromatosis Type 2

A

Autosomal Dominant

36
Q

Li-Fraumeni syndrome

A

Autosomal Dominant

37
Q

Tuberous sclerosis

A

Autosomal Dominant

38
Q

Neurofibromatosis Type 1 (von Recklinghausen disease)

A

Autosomal Dominant

39
Q

Huntington disease

A

Autosomal Dominant

40
Q

G6PD Deficiency

A

X Linked Recessive

41
Q

Achondroplasia

A

Autosomal Dominant

42
Q

Leigh syndrome

A

Mitochondrial Inheritance

43
Q

Red Green Color Blindness

A

X Linked Recessive

44
Q

Sickle Cell Anemia

A

Autosomal Recessive

45
Q

Adrenoleukodystrophy

A

X Linked Recessive

46
Q

IPEX

A

X Linked Recessive

Immune dysregulation polyendocrinopathy Enteropathy X linked syndrome

47
Q

Glycogen storage diseases

A

Autosomal Recessive

48
Q

Multiple Endocrine Neoplasias

A

Autosomal Dominant

49
Q

Wiskott Aldrich Syndrome

A

X Linked Recessive

50
Q

Marfan syndrome

A

Autosomal Dominant

51
Q

FAP

A

Autosomal Dominant