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Cytogen Flashcards

1
Q

inability to see color

A

Achromatopsia

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2
Q

reduction in adrenal gland function

A

Adrenal Hypoplasia Congenita

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3
Q

no melanin pigment in eyes, skin and hair

A

Albinism/Hypopigmentation

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4
Q

degenerative disease starting with memory loss

A

Alzheimer’s

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5
Q

poor or indistinct vision

A

Amblyopia

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6
Q

immunodeficiency disorder

A

Ataxia Telangiectasia

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7
Q

brain development disorder

A

Autism

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8
Q

Fatal, autosomal recessive neurodegenerative disorder

A

Batten Disease

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9
Q

progressive vision loss

A

Best’s Disease

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10
Q

physical disability in human development

A

Cerebral Palsy

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11
Q

Color Blindness

A

Color Blindness

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12
Q

formation of abnormal hemoglobin molecules

A

Cooley’s Anemia/Thalassemia

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13
Q

progressive disability due to multisystem failure

A

Cystic Fibrosis

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14
Q

autosomal recessive disorder of the renal tubules

A

Cystinosis

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15
Q

Diabetes

A

Diabetes

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16
Q

Impairment of cognitive ability, physical growth & facial appearance

A

Down Syndrome

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17
Q

disorder of the autonomic nervous system

A

Epidermolysis Bullosa

18
Q

disorder of the autonomic nervous system

A

Familia Dystautonomia

19
Q

Deficiency Anemia

A

G6PD (Glucose-6-phosphate Dehydrogenase)

20
Q

deficiency of the enzyme glucocerebrosidase

A

Gaucher’s Disease

21
Q

disease of the optic nerve

22
Q

inefficient control over blood clotting or coagulation

A

Hemophilia/Bleeding Disorders

23
Q

abnormal body movements

A

Huntington’s Disease

24
Q

abnormal body movements

A

Hurler Syndrome

25
Q

small testicles and reduced fertility

A

Klinefelter Syndrome

26
Q

fatal degenerative disorder of nervous system

A

Krabbe Disease

27
Q

loss of vision

A

Leber Congenital Amaurosis

28
Q

progressive degeneration of the white matter of the brain

A

Leukodystrophies

29
Q

progressive muscle weakness

A

Muscular Dystrophy

30
Q

disorder affecting lipid metabolism

A

Neimann-Pick Disease

31
Q

bening hamartomatous polyps in gastrointestinal tract

A

Peutz-Jeghers Syndrome

32
Q

deficiency in enzyme phenylalanine hydroxylase

A

Phenylketonuria (PKU)

33
Q

accelerated aging

34
Q

dropping upper eyelid or breasts

35
Q

abnormal,rigid, sickle shape of red blood cells

A

Sickle cell Anemia

36
Q

Abnormal bone and cartilage development

A

Skeletal Dysplasias

37
Q

incompletely formed spinal cord

A

Spina Bifida

38
Q

usually affects nervous tissue of the brain

A

Tay-Sachs Disease

39
Q

premature aging

A

Werner Syndrome

40
Q

“elfin” facial appearance, with low nasal bridge

A

Williams Syndrome

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