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ABGC2 > General (3) > Flashcards

General (3) Flashcards

1
Q

What are 3 Features of Pallister-Killian?

A
  • sparse hair
  • skin findings
  • ID
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2
Q

What is the lifespan in Loeys-Dietz?

A

Age 26

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3
Q

What dietary restriction should be implimented in galactosemia?

A

lactose

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4
Q

What are the effects of retinitis pigementosa?

A

vision loss in early adulthood

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5
Q

What is the mos common mechanism of UPD?

A

trisomic rescue

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6
Q

Is inv(9)(p11q13) pathogenic?

A

no

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7
Q

If a parent carries a reciprocal translocation, what is the recurrence risk?

A

20%

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8
Q

What percentage of inversions are inherited?

A

90%

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9
Q

What percentage of balanced reciprocal translocations are inherited?

A

70%

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10
Q

Name one feature of Sotos syndrome

A

overgrowth

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11
Q

Name 5 conditions with dysmorphic Features and normal intellect

A
  • Beckwith-Wiedemann
  • Achondroplasia
  • Crouzon
  • Saethre-Chotzen
  • Jackson-Weiss
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12
Q

Name 5 conditions with absent speech

A
  • Phelan-McDermid
  • Rett
  • 1p36
  • Angelman
  • Mowat-Wilson
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13
Q

Name 2 conditions with sparse hair

A
  • Pallister-Killian

- Sotos

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14
Q

Name 2 conditions with self-injurious behavior

A
  • 1p36

- Smith-Magenis

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15
Q

For what malignancy is there an increased risk with extenal beam radiation?

A

osteosarcoma

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16
Q

Name 3 conditions with regression

A
  • Rett
  • Tay-Sachs
  • Menkes
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17
Q

Name the 6 imprinted genes

A 
6
7
11
14
15
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18
Q

Name 6 mitochondrially inherited diseases

A
  • Leber
  • MELAS
  • MERRF
  • Kearns-Sayre
  • Pearson
  • Leigh
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19
Q

Other than eye features, what is seen in patients with cat eye syndrome?

A

kidney abnormalities

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20
Q

Name 6 FGFR-related craniosynostosis syndromes

A
  • Pfeiffer
  • Apert
  • Crouzon
  • Beare-Stevenson
  • Jackson-Weiss
  • Muenke
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21
Q

Which metabolic disorder has a normal urinalysis?

A

fatty acid oxidation

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22
Q

What therapy should be used during pregnancy to help a fetus with CAH?

A

dexamethasone

23
Q

What are 4 things that are NOT considered genetic info by GINA?

A
  • sex
  • age
  • routine tests
  • pre-existing conditions
24
Q

Geographic identifiers smaller than the ___ level are protected by HIPAA?

A

state

25
Q

Is the recurrence risk for a NTD higher if the index case is male or female?

A

female

26
Q

Name 3 conditions presenting with hyperammonemia in the newborn period

A
  • OTC
  • citrullinemia
  • propionic acidemia
27
Q

What is the purpose of carnitine?

A

to carry long chain fatty acids across the mitochondrial inner membrane

28
Q

Which is the most common trisomy leading to miscarriage?

A

T16

29
Q

Do triploid pregnancies with 2 sets of maternal or paternal chromosomes tend to be more successful?

A

maternal

30
Q

What are 2 features of HHT?

A
  • nosebleeds

- GI bleeds

31
Q

What genetic test has the highest yield for a diagnosis of a young boy with autism?

A

microarray

32
Q

What is the most significant feature of Meckel-Gruber?

A

cystic renal disease

33
Q

Is it okay to consume alcohol 2 weeks into pregnancy?

A

yes

34
Q

What Information does the Website OTIS provide?

A

about medications during pregnancy

35
Q

What condition has the feature of a very early onset of menses?

A

McCune-Albright

36
Q

Is FXTAS more similar to Parkinsons or SCA?

A

Parkinsons

37
Q

What is associated with a very low ue3 value?

A

Steroid sulfatase deficiency

38
Q

Does incontinentia pigmenti include DD?

A

yes

39
Q

What to AJ diseases have adult onset forms?

A
  • Tay-Sachs

- Gaucher

40
Q

Name 3 HLA linked diseases

A
  • narcolepsy
  • ankylosing Spondylitis
  • Reiter
41
Q

Is there any effective treatment for familial hypercholesterolemia?

A

yes, meds and liver transplant

42
Q

Which disorder involves the feature of inserting foreign objects into body orifices?

A

Smith-Magenis

43
Q

Which type of OI has blue sclerae?

A

type 1

44
Q

Which type of OI is neonatal lethal?

A

type 2

45
Q

What is the typical recurrance risk of an imprinting disorder?

A

1%

46
Q

What percentage of twins are monozygotic?

A

33%

47
Q

Which inheritance pattern is associated with the highest new mutation rate?

A

XL

48
Q

Match prelingual / postlingual hearing loss with AD / AR

A

pre: AR
post: AD

49
Q

Name 2 disorders with polyglutamine repeat expansion

A
  • Huntingtons

- SCA

50
Q

In which subpopulation is MSUD most common?

A

Mennonites

51
Q

Name a disorder that can mimic Marfan

A

homocystinuria

52
Q

Name 4 XL metabolic conditions

A
  • OTC
  • adrenoleukodystrophy
  • Fabry
  • Hunter
53
Q

Match sensitivity and specificity with true + and - rates

A

sensitivity: true positive
specificity: true negative

ABGC2 (12 decks)

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