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Erwin Personal Flash Cards > Genetic Disorders > Flashcards

Genetic Disorders Flashcards

1
Q

Structural or numerical alteration in autosome and sex chromosome

A

Chromosomal disorder

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2
Q

Interaction between multiple variant forms of genes and environmental factors

A

Complex multigenic disorders

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3
Q

Permanent change in the DNA that can be transmitted to progeny

A

Germ cell mutation

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4
Q

Permanent change in the DNA that does not cause hereditary diseases but are important in carcinogenesis

A

Somatic cell mutation

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5
Q

Change in single nucleotide base within a gene

A

Point mutation

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6
Q

Point mutation altered DNA codes for the same amino acid

A

Silent mutation

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7
Q

Point mutation altered DNA codes for a different amino acid

A

Missense mutation

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8
Q

Point mutation altered DNA codes for a stop codon

A

Nonsense mutation

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9
Q

Stop codons

A

UAA
UGA
UAG

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10
Q

Start codon

A

AUG

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11
Q

Occurs if the number of base pairs involved is not a multiple of three

A

Frameshift mutation

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12
Q

Transmitted only through mother where all offspring of affected females show signs of disease

A

Mitochondrial inheritance

  • Mitochondrial myopathy, encphalomypathy, lactic acidosis, stroke-like symptoms
  • Leber’s hereditary optic neuropathy
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13
Q

Autosomal dominant, tall with long extremities, lax joint ligaments (hyperextensible thumb) doliocephalic frontal bossing, ectopia lentis, aortic dissection

A

Marfan syndrome

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14
Q

Defective extracellular glycoprotien in Marfan’s Syndrome

A

Fibrillin-1

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15
Q

Ocular change in marfan syndrome

A

Ectopia lentis

Bilateral subluxation or dislocation of the lens (out and up)

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16
Q

In Marfan syndrome, CYSTIC MEDIAL NECROSIS of the ascending aorta will predispose them to

A

Aortic dissection (cause of death 30-45%)

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17
Q

Result in defective synthesis of structure of fibrillar collagen. Skin is extraordinarily stretchable, extremely fragile, and vulnerable to trauma

A

Ehlers-danlos syndromes

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18
Q

Differentiates marfan syndrome from EDS

A

Ectopia lentis
MVP
Aortic dissection

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19
Q

Mutation in gene encoding for LDL receptor, loss ofmfeedback control and elevated levels of cholesterol. (Premature atherosclerosis and increased risk for MI)

A

Familial hypercholesterolemia

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20
Q

Deficient in Tay-Sach’s disease

A

Hexosaminidase a-subunit

Associated with relentless motor and mental deterioration

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21
Q

Lysosomal accumulation of sphingomyelin d/t deficient sphingomyelinase

A

Niemann-Pick disease

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22
Q

Type of Niemann-pick disease that is severe infantile form with extensive neurologic involvement and organomegaly

A

Type A

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23
Q

Niemann-pick disease type with organomegaly and NO CNS involvment

A

Type B

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24
Q

Common finding of Tay-sachs disease and Niemann-pick disease

A

Cherry red spot in macula

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25
Q

Differentiates Niemann-pick from Tay-sach’s

A

Presence of Organomegaly

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26
Q

Most common lysosomal storage disorder

A

Gaucher disease

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27
Q

Cluster of autosomal recessive disorders resulting from mutations in the gene encoding glucocerebrosidase

A

Gaucher disease

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28
Q

Deficient in Gaucher disease

A

Glucocerebrosidase

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29
Q

Distended phagocytic cells with crumpled tissue paper appearance

A

Gaucher cells

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30
Q

Gaucher cells common location

A

Near arterioles (Virchow Robin spaces)

31
Q

Race with exceptionally high prevalence of genetic disease

A

Ashkenazi jews

32
Q

The only autosomal recessive MPS (mucopolysaccharidoses)

A

Hunter syndrome (X-linked recessive)

33
Q

Common histologic finding in Niemann-pick and Mucopolysaccharidoses

A

Zebra bodies

34
Q

Present in mucopolysaccharidoses.

Distended cells with apparent clearing of the cytoplasm

A

Balloon cells

35
Q

First human inborn error of metabolism

A

Alkaptonuria

36
Q

Blue-black pigmentation evident in ears, nose and cheeks in patients with Alkaptonuria

A

Ochronosis

37
Q

Autosomal recessive disorder that lacks HOMOGENTISTIC OXIDASE

A

Alkaptonuria

38
Q

Unequal separation of chromosomes in meiosis 1

A

Nondisjunction

39
Q

Mitotic errors in early development that give rise to two or more populations of cells with different chromosomal complement

A

Mosaicism (eg. Turner’s syndrome, Down syndrome)

40
Q

Loss of portion of a chromosome (eg. Cri du Chat syndrome)

A

Deletion

41
Q

Transfer of chromosome parts between nonhomologous chromosomes

A

Translocation

42
Q

Type of translocation without loss of genetic material

A

Balanced translocation

43
Q

Type of translocation where transfer of segments leads to one very large chromosome and one extremely small one.

A

Robertsonian translocation

44
Q

Most common chromosomal disorder

A

Down syndrome (95% of cases, trisomy 21)

45
Q

Risk factors for Down Syndrome

A

Increasing maternal age (women >45yo)

46
Q

Most common genetic cause of mental retardation

A

Down syndrome

47
Q

Leukemia in down syndrome

A

> 3yo ALL

48
Q

Expected result in QUADRUPLE SCREEN for down syndrome

A

Increased b-HCG and inhibin A

Decreased AFP and Estriol

49
Q

Expected ultrasonographic finding in patients with Down Syndrome

A

Increased nuchal transparency

50
Q

Trisomy 18

A

Edwards syndrome

51
Q

Rocker bottom feet, MR, VSD, micrognathia, clenched hands

A

Edwards syndrome (Trisomy 18)

52
Q

Trisomy 13

A

Patau Syndrome

53
Q

VSD, rocker bottom feet, polydactyly, holoprosencephaly, cleft lip and palate

A

Patau Syndrome (trisomy 13)

54
Q

Clinical manifestation of Di George Syndrome

A 
Cardiac defects
Abnormal facies
Thymic aplasia
Cleft palate
Hypocalcemia
22q11.2 deletion
55
Q

Derivative of 1st branchial pouch

A

Middle ear cavity
Eustachian tube
Mastoid air cells

56
Q

Derivatives of 2nd branchial pouch

A

Epithelial lining of palatine tonsils

57
Q

Derivatives of 3rd branchial pouch

A

Thymus

L & R inferior Parathyroid

58
Q

Derivatives of 4th branchial pouch

A

L & R superior parathyroids

59
Q 
Prominent nose
Retrognathia
Cleft palate
Cardiovascular abnormalities
Learning disability
A

Velocardiofacial syndrome

60
Q

Klinefelter Syndrome

A

47XXY
Male hypogonadism
Testicular atrophy
Eunochoid body shape

61
Q

Turner syndrome

A

XO, no barr body

Short stature

62
Q

Location of aortic coarcation in Turner syndrom

A

Preductal

63
Q

Most common cause of primary amenorrhea

A

Ovarian dysgenesis

64
Q

Microdeletion of long arm of chromosome 7

A

Williams syndrome

65
Q 
Elfin facies
Extreme friendliness 
Well developed verbal skills
Hypercalcemia
MR
A

Williams syndrome

66
Q

Ambiguous genitalia

A

True hermaphrodite

67
Q

Usual karyotyoe of true hermaphroditism

A

46,XXY

68
Q

2nd most common genetic cause of mental retardation

A

Fragile X syndrome

69
Q

Prototype trinucleotide diseae

A

Fragile-X syndrome

70
Q

Large mandible, large everted ears, macro orchidism

A

Fragile-X Syndrome

71
Q

Microdeletion, paternal chromosome 15

A

Prader-Willi Syndrome

72
Q

Microdeletion, maternal chromosome 15

A

Angelman syndrome

73
Q 
Wide based gait (marionette)
Inappropriate laughter (happy puppet syndrome)
A

Angelman syndrome

74
Q

Mutations in single gene with large effects (High penetrance)

A

Mendelian disorders

Erwin Personal Flash Cards (16 decks)

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