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Lab Exam > Genetics > Flashcards

Genetics Flashcards

1
Q

Huntington Disease

A

Nervous

Autosomal Dominant

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2
Q

Neurofibramatosis

A

Nervous

Autosomal Dominant

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3
Q

Myotonic Dystrophy

A

Nervous

Autosomal Dominant

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4
Q

Tuberous Sclerosis

A

Nervous

Autosomal Dominant

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5
Q

Polycystic Kidney Disease

A

Urinary
Autosomal Dominant
Associated with aneurysm in Circle of Willis

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6
Q

Familial Polyposis Coli

A

GI

Autosomal Dominant

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7
Q

Hereditary Spherocytosis

A

Hematopoietic

Autosomal Dominant

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8
Q

von Willebrand disease

A

Hematopoietic

Autosomal Dominant

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9
Q

Marfan Syndrome

A

Skeletal

Autosomal Dominant

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10
Q

Ehlers-Danlos syndrome

A 
Skeletal
Autosomal Dominant (Some variants)
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11
Q

Osteogenesis Imperfecta

A

Skeletal

Autosomal Dominant

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12
Q

Achondroplasia

A

Skeletal

Autosomal Dominant

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13
Q

Familial Hypercholesteremia

A

Metabolic

Autosomal Dominant

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14
Q

Acute Intermittent Porphyria

A

Metabolic

Autosomal Dominant

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15
Q

Proteins normally affected by Autosomal Dominent disorders

A

Loss of function of regulatory proteins with complex metabolic consequences

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16
Q

Infant with hepatosplenomegaly, failure to thrive, vomiting, fever, lymphadenopathy and psychomotor deterioration. Accumulation of sphingomyelin

A

Niemann Pick Disease

17
Q

Glucocerebroside accumulates in mononuclear phagocytes througout body with spleen and bone involvement predominating (No CNS involvement)

A

Gaucher Disease (Type 1)

18
Q

Relentless motor and mental deterioration leading to flaccidity, blindness, dementia, and death by age 2-3

A

Tay-Sachs Disease
Common in Ashkenazi Jews
Lysosomal Storage Disorder

19
Q

Hepatomegaly, renomegaly, hypoglycemia and cardiac disease

A

Glycogen Storage Disease

20
Q

Cystic Fibrosis

A

Metabolic

Autosomal Recessive

21
Q

Phenyketonuria

A

Metabolic

Autosomal Recessive

22
Q

Galactosemia

A

Metabolic Autosomal Recessive

23
Q

Homocystinuria

A

Metabolic

Autosomal Recessive

24
Q

Lysosomal Storage Diseases

A

Metabolic

Autosomal Recessive

25
Q

A1-antitrypsin deficiency

A

Metabolic

Autosomal Recessive

26
Q

Wilson Disease

A

Metabolic

Autosomal Recessive

27
Q

Hemochromatosis

A

Metabolic

Autosomal Recessive

28
Q

Glycogen Storage Diseases

A

Metabolic

Autosomal Recessive

29
Q

Sickle Cell Anemia and Thalassemias

A

Hematopoietic

Autosomal Recessive

30
Q

Congenital Adrenal Hyperplasia

A

Endocrine

Autosomal Recessive

31
Q

Ehlers-Danlos Syndrome (Some) and Alkaptonuria

A

Skeletal

Autosomal Recessive

32
Q

Spinal Muscular Atrophy

A

Nervous

Autosomal Recessive

Lab Exam (12 decks)

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