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ABGC2 > final > Flashcards

final Flashcards

1
Q

PARK2 gene

A

juvenile onset Parkinsons

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2
Q

What gene is associated with Hirschsprung?

A

MEN2

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3
Q

GBA and GPCx genes

A

GBA: Gaucher
GPC: Simpson Golabi Behmel

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4
Q

DBT gene

A

MSUD

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5
Q

TWIST1 gene

A

Saethre-Chotzen

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6
Q

Name 2 HL syndromes with renal implications

A
  • BOR

- Alport

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7
Q

Which HL disorder can also present with seizures?

A

peroxisomal disorders

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8
Q

Name a microdeletion syndrome with hearing loss

A

18q-

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9
Q

What are the inheritance patterns of DFNB1 and DFNA3?

A

1: AR
3: AD

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10
Q

Name a neuromuscular condition with bladder dysfunction

A

Friedrich’s ataxia

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11
Q

Name 2 hearing loss syndromes which also have retinitis pigentosa

A
  • peroxisomal disorders

- Usher

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12
Q

Which HL disorder can present with precocious arthritis?

A

Stickler

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13
Q

Name a biochemical screening test for peroxisomal disorders

A

very long chain fatty acids

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14
Q

What disorder results in accumulation of ammonia?

A

OTC deficiency

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15
Q

Can liver transplant be used in urea cycle disorders?

A

yes

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16
Q

Give one example of a urea cycle defect

A

OTC deficiency

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17
Q

Can a premature baby have a false measurement on NBS for biotinidase deficiency?

A

yes, it can be too low and thus a false positive

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18
Q

Name one feature of adult onset Tay-Sachs

A

psychosis

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19
Q

What disorder is most associated with respiratory alkalosis?

A

carbamyl phosphate synthetase deficiency

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20
Q

What disorder is associated with coarse facial features and normal eyes?

A

Hunter syndrome

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21
Q

Are corneas cloudy in MPSIII / Sanfilippo?

A

no

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22
Q

Name 3 features of Pompe disease

A
  • cardiomegaly
  • enlarged tongue
  • hypotonia
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23
Q

What is the most common lysosomal storage disorder?

A

Gaucher

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24
Q

Name 2 diseases which confer malaria resistance

A
  • sickle cell

- G6PD

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25
Q

What are the inheritance pattens for short and long S

segment Hirschsprung disease?

A

short: AR
long: AD

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26
Q

LIS1 gene

A

Miller-Dieker syndrome (think feature of lissencephaly)

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27
Q

What type of diabetes has high prevalence in Pima Native Americans?

A

non-insulin-dependent

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28
Q

Is Aicardi syndrome very severe?

A

yes, it has holoprosencephaly

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29
Q

In what disease are there no tears?

A

dysautonomia

30
Q

In which disorder can fava beans be problematic?

A

G6PD

31
Q

What type of metabolic disorder has normal urinalysis?

A

fatty acid oxidation

32
Q

Name 3 conditions presenting with hyperammonemia in the newborn period

A
  • OTC
  • citrullinemia
  • propionic acidemia
33
Q

What is the most common trisomy leading to miscarriage?

A

T16

34
Q

Which disorder is rhabdomyoma associated with?

A

TSC

35
Q

Which disorder is supravalvular aortic stenosis associated with?

A

Williams

36
Q

Match skeletal anomalies, neonatal diabetes, and growth restriction to chromosomes

A

6: neonatal diabetes
7: growth restriction
14: skeletal anomalies

37
Q

What are the 4 most common AJ conditions in order from most to least common?

A
  • Gaucher
  • CF
  • Tay-Sachs
  • dysautonomia
38
Q

Name 3 teratogens associated with NTDs

A
  • valproic acid
  • maternal diabetes
  • retinoic acid
39
Q

Name 2 teratogens which increase risk for clefting

A
  • maternal diabetes

- retinoic acid

40
Q

What does prenatal statin exposure increase risk for?

A

holoprosencephaly

41
Q

Name 3 teratogens which increase risk for CHDs

A
  • lithium
  • accutane
  • maternal diabetes
42
Q

What 2 disorders are associated with chromosome 5 deletions?

A

5p- : cri du chat

5q- : Sotos

43
Q

What chromsome deletion is associated with Williams syndrome?

A

7q11

44
Q

What 2 disorders are associated with chromosome 11 deletions?

A

11p13 : WAGR

11q : Jacobsen

45
Q

What 2 disorders are associated with chromosome 17 deletions?

A

17p11 : Smith-Magenis

17p13 : Miller-Dieker

46
Q

How do you calculate the PPV?

A

true positive rate over total positives times 100

47
Q

Which trisomy is CPC most associated with?

A

T18

48
Q

Which trisomy is holoprosencephaly most associated with?

A

T13

49
Q

What percentage of twin pregnancies are dichorionic?

A

70%

50
Q

What does the lemon sign have a strong association with?

A

spina bifida

51
Q

Are 45,X / 46,XY normal?

A

yes, the majority are

52
Q

If a mosaic trisomy 16 result is found on CVS, what is the likely truth?

A

CPM

53
Q

Are trisomy 20 mosaics normal?

A

yes, usually

54
Q

Which analytes are measured in the 1st trimester?

A

PAPPA
hCG
NT

55
Q

Which analyte is only used for T21 risk?

A

INH

56
Q

Which analytes are used for SCD risk?

A

hCG, uE3, AFP

57
Q

Which analytes go up over time?

A

PAPPA
uE3
AFP

58
Q

Which analytes go down over time?

A

hCG

59
Q

Which analytes stay constant over time?

A

INH

60
Q

In what week does the neural tube close?

A

4

61
Q

Which analytes are secreted by only the placenta?

A

PAPPA
hCG
INH

62
Q

Which analytes are secreted only by the fetus?

A

AFP

63
Q

Which analytes are secreted by both?

A

uE3

64
Q

What percentage of T21 fetuses have an absent/short nasal bone?

A

60%

65
Q

What is one behavior that can increase risk of clubfoot?

A

smoking

66
Q

What is the time window for first trimester blood draw and ultrasound?

A

11-14 weeks

67
Q

What is the time window for second trimester blood draw and ultrasound?

A

15-20 weeks

68
Q

Which analyte is lower in smokers?

A

uE3

69
Q

Which analyte is lower in diabetics, overweight?

A

AFP

70
Q

Which analyte is higher in blacks?

A

AFP

71
Q

SMN1 and SMN2 genes

A

SMA, deletions in SMN1 exon 7

72
Q

At what age does alpha thal present?

A

prenatally

ABGC2 (12 decks)

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