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final Flashcards

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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
What are the inheritance pattens for short and long S | segment Hirschsprung disease?
short: AR long: AD
26
LIS1 gene
Miller-Dieker syndrome (think feature of lissencephaly)
27
What type of diabetes has high prevalence in Pima Native Americans?
non-insulin-dependent
28
Is Aicardi syndrome very severe?
yes, it has holoprosencephaly
29
In what disease are there no tears?
dysautonomia
30
In which disorder can fava beans be problematic?
G6PD
31
What type of metabolic disorder has normal urinalysis?
fatty acid oxidation
32
Name 3 conditions presenting with hyperammonemia in the newborn period
- OTC - citrullinemia - propionic acidemia
33
What is the most common trisomy leading to miscarriage?
T16
34
Which disorder is rhabdomyoma associated with?
TSC
35
Which disorder is supravalvular aortic stenosis associated with?
Williams
36
Match skeletal anomalies, neonatal diabetes, and growth restriction to chromosomes
6: neonatal diabetes 7: growth restriction 14: skeletal anomalies
37
What are the 4 most common AJ conditions in order from most to least common?
- Gaucher - CF - Tay-Sachs - dysautonomia
38
Name 3 teratogens associated with NTDs
- valproic acid - maternal diabetes - retinoic acid
39
Name 2 teratogens which increase risk for clefting
- maternal diabetes | - retinoic acid
40
What does prenatal statin exposure increase risk for?
holoprosencephaly
41
Name 3 teratogens which increase risk for CHDs
- lithium - accutane - maternal diabetes
42
What 2 disorders are associated with chromosome 5 deletions?
5p- : cri du chat | 5q- : Sotos
43
What chromsome deletion is associated with Williams syndrome?
7q11
44
What 2 disorders are associated with chromosome 11 deletions?
11p13 : WAGR | 11q : Jacobsen
45
What 2 disorders are associated with chromosome 17 deletions?
17p11 : Smith-Magenis | 17p13 : Miller-Dieker
46
How do you calculate the PPV?
true positive rate over total positives times 100
47
Which trisomy is CPC most associated with?
T18
48
Which trisomy is holoprosencephaly most associated with?
T13
49
What percentage of twin pregnancies are dichorionic?
70%
50
What does the lemon sign have a strong association with?
spina bifida
51
Are 45,X / 46,XY normal?
yes, the majority are
52
If a mosaic trisomy 16 result is found on CVS, what is the likely truth?
CPM
53
Are trisomy 20 mosaics normal?
yes, usually
54
Which analytes are measured in the 1st trimester?
PAPPA hCG NT
55
Which analyte is only used for T21 risk?
INH
56
Which analytes are used for SCD risk?
hCG, uE3, AFP
57
Which analytes go up over time?
PAPPA uE3 AFP
58
Which analytes go down over time?
hCG
59
Which analytes stay constant over time?
INH
60
In what week does the neural tube close?
4
61
Which analytes are secreted by only the placenta?
PAPPA hCG INH
62
Which analytes are secreted only by the fetus?
AFP
63
Which analytes are secreted by both?
uE3
64
What percentage of T21 fetuses have an absent/short nasal bone?
60%
65
What is one behavior that can increase risk of clubfoot?
smoking
66
What is the time window for first trimester blood draw and ultrasound?
11-14 weeks
67
What is the time window for second trimester blood draw and ultrasound?
15-20 weeks
68
Which analyte is lower in smokers?
uE3
69
Which analyte is lower in diabetics, overweight?
AFP
70
Which analyte is higher in blacks?
AFP
71
SMN1 and SMN2 genes
SMA, deletions in SMN1 exon 7
72
At what age does alpha thal present?
prenatally

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