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Patho > Genetics > Flashcards

Genetics Flashcards

0
Q

Bilateral acoustic neuroma

A

NF 2

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1
Q

Black urine, nails, joints

A

Alcaptonuria

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3
Q

Inactive X chromosome in Kleinfelter’s syndrome

A

Barr bodies

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4
Q

MC pediatric muscular dystrophy

A

Duchenne Muscular Dystrophy

Pseudohypertrophy
Usually due to frameshift mutation, new mutation

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5
Q

Box car ventricles

A

Huntington’s Disease

Chromosome 4

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6
Q

Brain structure affected by Huntington’s

A

Caudate nucleus

Leading to “box-car” ventricles

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8
Q

Velocardiofacial syndrome

A

DiGeorge syndrome

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9
Q

Primary defect in Marfan’s syndrome?

A

Fibrillin

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10
Q

Defect in adult polycystic kidney disease is found on which chromosome?

A

Chromosome 16

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11
Q

Hemangioblastoma/cavernous hemangioma of the cerebellum, brainstem, and retina are seen in which condition?

A

Von-Hippel-Lindau syndrome

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12
Q

Cystic fibrosis is due to defect in which chromsome?

A

Chromsome 7

Autosomal recessive

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13
Q

What is the chloride sweat test in cystic fibrosis?

A

> 70 mmol/L

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14
Q

Chromosome involved in FAP?

A

Chromosome 5

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15
Q

What is the genetic absence of HGPRTase leading to excessive uric acid production?

A

Lesh-Nyhan Syndrome

X-linked
Leads to MR, self-mutilation, and gout formation

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16
Q

Types of collagen defect in Ehler’s Danlos?

A

Collagen I and III

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17
Q

Cherry red spot in the macula?

A

Tay-Sach’s disease

Deficiency in Hexosaminidase

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18
Q

What condition involves an LDL receptor defect leading to xanthomas and early development of atherosclerosis?

A

Familial hypercholesterolemia

AD

19
Q

What is Fabry’s disease?

A

Deficiency in alpha-galactosidase A

X-linked
Accumulation of ceramide trihexoside

20
Q

What is Gaucher’s disease?

A

Deficiency in beta-glucocerebrosidase

AR
Accumulation of glucoerebroside

21
Q

What is Neimann-Pick disease?

A

Deficient sphingomyelinase

22
Q

What is deficient in Hurler’s disease?

A

Alpha-L-iduronidase

With corneal clouding

23
Q

What is deficient in Hunter’s disease?

A

Iduronosulfate sulfatase

X-linked, no corneal clouding

24
Q

What is the most common cardiac defect in Turner’s syndrome?

A

Coarctation of the aorta

25
Q

Ash leaf spots are seen on which condition?

A

Tuberous sclerosis

Hypopigmentation

26
Q

Shagreen path are seen in which condition?

A

Tuberous sclerosis

27
Q

Steinert’s disease is also known as?

A

Myotonic dystrophy

With frontal bossing and fish mouth

28
Q

Which condition is associated with Christmas tree cataracts?

A

Myotonic dystrophy

29
Q

Huntington’s disease chromosomal defect?

A

Triple defect of CAG on chromosome 4

Presents with chorea, dementia, and depression

30
Q

Deficiency associated with DiGeorge syndrome

A

T cell deficiency

Failure to develop 3rd and 4th pouches

31
Q

Most common and most serious form of organ involvement in amyloidosis?

A

Kidneys

32
Q

Organ involved in senile, systemic amyloidosis?

A

Heart

33
Q

2D echo finding in amyloidosis involving the heart?

A

Sparkling granular appearance

34
Q

Sago spleen is seen in?

A

Amyloidosis

35
Q

Kartagener’s syndrome is a defect in?

A

Dynein (retrograde)

36
Q

HLA B27 is associated with which condition?

A

Reiter’s syndrome

37
Q

What is seronegative spondyloarthropathy?

A

Reiter’s syndrome

38
Q

Defects in Reiter’s syndrome?

A

Cant see, pee, climb a tree

Anterior uveitis, urethritis, arthritis

39
Q

Main defect in Wilson’s disease?

A

Decreased ceruloplasmin

40
Q

William syndrome is deficiency in which component?

A

Elastin

Deletion in chromosome 27
Resulting in supravalvular aortic stenosis

41
Q

Seronegative spondyloarthropathy is associated with which condition?

A

Ankylosing spondylitis

HLA-B27

Patho (14 decks)

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