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Things I suck at (BOARDS) > Genetics > Flashcards

Genetics Flashcards

1
Q

Barr body in Klinefelter’s is what?

A

Inactivated X-chromosome

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2
Q

Bilateral absence of the vas deferens is suggestive of what inherited disease.

A

Cystic fibrosis; thus, CF can also present as infertility (due to azoospermia) in males. So, both CF and Kartagener’s can present with recurrent respiratory infections and infertility in males. Don’t jump to conclusions.

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2
Q

Gene and chromosome affect in familial adenomatous polyposis

A

APC gene Chromosome 5 (5 letters in “polyp”)

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2
Q

Trisomy of what in Patau syndrome

A

13 (Puberty at 13)

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3
Q

What needs to happen in a kid with a familial retinoblastoma disorder to develop cancer.

A

Sporadic mutation in the normal gene. Both genes need to be affected for cancer to develop; this is the 2 hit hypothesis. If only one gene is affected, the other gene can make up for the mutated gene. However, when a mutation happens to the second gene, then cancer develops.

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4
Q

Genetic defect in Cri-du-chat

A

Microdeletion of the short arm of chromosome 5

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5
Q

Inheritance and chromosome affected in neurofibromatosis type 1 (von Recklinghausen)

A

AD Chromomosome 17 (17 letters in “von Recklinghausen”)

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5
Q

Ataxia, spider angiomas (telangiectasias), IgA deficiency (increased sinopulmonary infections)

A

Ataxia-telangiectasia

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6
Q

What does the Rb gene normally do

A

Inhibits E2F which blocks the G1 to S transition in the cell cycle

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6
Q

Normal function of frataxin

A

Mitochondrial functioning

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6
Q

Degeneration of what in freidrich ataxia

A

Posterior column and spinocerebellar tracts

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7
Q

Osler-Weber-Rendu (aka hereditary hemorrhagic telangiectasia) inheritance

A

AD

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8
Q

Chromosomal abnormality in Klinefelter’s

A

XXY

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8
Q

Telangiectasias, epistaxis, AVMs, skin discolorations

A

Hereditary hemorrhage telangiectasia (aka Osler-Weber-Rendu syndrome)

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8
Q

Increased incidence of what type of brain tumor in tuberous sclerosis

A

Astrocytoma

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9
Q

Renal complications in tuberous sclerosis

A

Renal angiomyolipoma, renal cysts

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11
Q

Dysfunctional gene in Friedrich ataxia

A

Frataxin

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12
Q

Chromosomal defect in turners

A

XO; hugs and kisses (X’s and O’s) from Tina Turner

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13
Q

Edwards syndrome is a trisomy of what

A

Chromosome 18 (Election age is 18)

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14
Q

Macro-orchidism (large balls), long face and long jaw, large everted ears, autism

A

Fragile X syndrome (X-tra large things; balls, face, ears)

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16
Q

If someone has familial retinoblastoma, what other tumor are they most likely to develop

A

Osteosarcoma

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17
Q

Labs in Turner syndrome

A

Decreased estrogen leading to increased LH and FSH (loss of negative feedback)

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18
Q

Inheritance, gene and chromosome affected in CF

A

AR CFTR gene (mostly deletion of Phe at 508) Chromosome 7

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19
Q

Why is dystrophin being the longest gene relevant to it’s genetics

A

Longer gene=more opportunities for mutations and thus a higher mutation rate

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19
Q

Mental retardation, rocker-bottom feet, micropthalmia, CLEFT LIP/PALATE, HOLOPROSENCEPHALY, POLYDACTYLYL

A

Patau’s syndrome (All caps for findings that differ from Edwards syndrome)

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21
Q

Heart defects in Turner’s

A

Bicuspid aortic valve (most common), preductal coarcation of the aorta

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22
Q

Short limbs, large head, normal torso

A

Achondroplasia

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22
Q

Hemangiomas in the retina/cerebellum/medulla and pts often develop bilateral renal cell carcinoma

A

von Hippel-Lindau dx

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23
Q

Conjunctivitis, urethritis, and arthritis are the triad of what? Associated with what HLA?

A

Reactive arthritis triad (can’t see, can’t pee, can’t climb a tree); Mostly associated with HLA-B27

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23
Q

High-pitched “mewing”, mental retardation, microcephaly, epicanthial folds, cardiac abnormalities (VSD)

A

Cri-du-chat (Cry of the cat=mewing)

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24
Q

Cardiac findings in tuberous sclerosis

A

Cardiac rhabdomyoma

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25
Q

Cardiovascular defects associated with ADPKD

A

Berry aneurysms, mitral valve prolapse

26
Q

Hereditary spherocytosis inheritance

A

AD

26
Q

Freidrich’s ataxia trinucleotide repeat

A

GAA

27
Q

Lab values in Klinefelter’s

A

Increased FSH (due to decreased inhibin from seminiferous tubules), and increased LH and estrogen (due to decreased testosterone as a result of abnormal Leydig cell function)

29
Q

Short, ovarian dysgenesis, shield chest, webbing of neck (cystic hygroma).

A

Turner Syndrome

30
Q

Inheritance, gene and chromosome affected in von Hippel-Lindau dx

A

AD VHL gene deletion Chromosome 3 (3 letters in “VHL”)

31
Q

Myelogenous disorder associated with Down Syndrome

A

AML

32
Q

Cafe-au-lait spots, neural tumors, Lisch nodules (pigmented iris hamartomas), skeletal disorders (scoliosis) and optic pathway gliomas

A

Neurofibromatosis type 1 (von Recklinghausen dx)

33
Q

Most cases of Down syndrome are due to what

A

Meiotic nondisjunctin in meiosis 1 (95%) Next most common cause is Robertsonian translocation (4%) Finally, 1% of cases are due to mosaicism

34
Q

Trinucleotide repeat in Fragile X

A

CGG

34
Q

GI defects associated with down syndrome

A

Duodenal atresia, Hirschsprungs disease

35
Q

Familial hypercholesterolemia defect due to what?

A

Defective or absent LDL receptors

35
Q

Weakness in pelvic girdle muscles, pseudohypertrophy of calf muscles, cardiac myopathy

A

Duchenne’s muscular dystrophy

36
Q

You find a grown-ass man with bilaterally enlarged kidneys and cysts in his liver

A

Autosomal-dominant polycystic kidney disease

36
Q

Adenomatous polyps start developing after puberty

A

Familial adenomatous polyposis (FAP)

37
Q

How do newborns often present with CF

A

Meconium ileus (green poo causing a GI obstruction)

39
Q

Facial adenoma sebaceums, hypopigmented “ash-leaf” spots, cortical and retinal hamartomas, seizures, mental retardation

A

Tuberous sclerosis

40
Q

“Elfin” facies, mental disability, hypercalcemia (increased sensitivity to “the D”), well developed verbal skills, extreme friendliness with strangers

A

Williams syndrome (Williams the friendly elf)

42
Q

Inheritance and chromosome affected in Marfan’s

A

AD Chromosome 15 (Mar”fifteen”)

42
Q

Inheritance, gene, and chromosome affect in NF2

A

AD Chromosome 22 NF2 gene Everything is 2 in this dx; bilateral (2) acoustic neuromas, NF2 gene, chromosome 22 affected

43
Q

Familial hypercholesterolemia inheritance

A

AD

45
Q

Rheumatoid arthritis is associated with what HLA?

A

HLA-DR4

45
Q

Mental retardation, rocker-bottom feet, micrognathia (small jaw), low set Ears, clenched hands, prominent occiput

A

Edwards syndrome

47
Q

700+ mg/dL cholesterol, tendon xanthomas, early atherosclerotic disease

A

Familial hypercholesterolemia (hyperlipidemia type IIa)

48
Q

Heart defects in Down Syndrome

A

Ostium primum ASD, endocardial cushion defects

50
Q

Inheritance of tuberous sclerosis

A

AD

51
Q

Eye defect in NF2

A

Juvenile catacts

52
Q

A kid with a family history of tumors develops a white tumor in his eye that needs enucleated. What gene is affected?

A

Loss of function in the Rb gene, a tumor suppressor (kid has retinoblastoma)

54
Q

Gene defect and chromosome affect in ADPKD

A

Mutation in PKD1 Chromosome 16 (16 letters in “polycystic kidney”)

55
Q

Defect in ataxia-telangiectasia

A

ATM gene which codes for DNA repair enzymes DNA hypersensitivity to radiation

56
Q

How does the VHL gene deletion cause hemangioblastomas in von Hippel-Lindau

A

Cause constitutive expression of hypoxia inducible factor 1 (HIF1) which leads to increased expression of angiogenic growth factors

57
Q

Most common mutation causes what in CF

A

Abnormal protein folding leads to the protein being degraded before it reaches the membrane surface

59
Q

Lab values in Edwards syndrome

A

Decreased AFP, B-hCG, estriol, and normal inhibin

61
Q

Inheritance and gene defect in achondroplasia

A

AD Cell signalling defect of fibroblast growth factor (FGF) receptor 3

62
Q

Lab values in Patau’s syndrome

A

Decrease B-hCG and PAPP-A, increased nuchal translucency

64
Q

Male with testicular atrophy, eunuchoid body shape (pear shaped?), tall, long extremeties, gynecomastia, female hair distribution

A

Klinefelter’s syndrome

66
Q

Cardiovascular problems in Marfan

A

Cystic medial necrosis leading to aortic aneurysm/incompetence Dissecting aortic aneurysms Floppy mitral valves

68
Q

2 reasons tuberous sclerosis presents differently or might not present at all

A

Incomplete penetrance and variable expression

69
Q

Trinucleotide repeat in myotonic dystrophy

A

CTG

70
Q

Defect in spectrin or ankyrin causes this

A

Hereditary spherocytosis

72
Q

Ataxia, pes cavus, hypertrophic cardiomyopathy, kyphoscoliosis; disease and inheritance

A

Freidrich ataxia; AR

73
Q

How do you diagnosis Duchenne muscular dystrophy?

A

Increased CPK and muscle biopsy

74
Q

Kidney defect in Turner’s

A

Horseshoe kidney

75
Q

Muscle weakness in extremeties, v-shaped upper lip, autosomal dominant

A

Myotonic muscular dystrophy

76
Q

Down syndrome is associated with what heart defects

A

Endocardial cushion defects (ostium primum ASD) and regurgitant AV valves

77
Q

Inheritance and gene affected in Duchenne muscular dystrophy

A

Dystrophin gene (frameshift mutation, DMD, longest human gene) X-linked

78
Q

Trinucleotide repeat in Friedrich ataxia

A

GAA

79
Q

Cardiac problem in Fragile X

A

Mitral valve prolapse

Things I suck at (BOARDS) (12 decks)

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