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Genetic Counseling Boards Prep 2023 > Random - from study notes > Flashcards

Random - from study notes Flashcards

1
Q

What are expected outcomes from unbalanced translocations?

A

Alternate: phenotypically normal, balanced translocation or normal

Adjacent 1: unbalanced translocation

Adjacent 2: unbalanced, usually lethal

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2
Q

What signifies the Philadelphia chromosome?

A

BCR-ABL1
(chromosomes 22 and 9)

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3
Q

What is the most common Robertsonian translocation?

A

13;14

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4
Q

What cause of BWS has the highest recurrence risk in sibs?

A

genomic variant involving 11p15.5
- recurrence up to 50%

CDKN1C variant- 50%

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5
Q

What types of variants in COL1A1 or COL1A2 OI type 1 vs types 2-4?

A

type 1 (classic non-deforming, least severe): non functional alleles: del, stop gain

types 2-4: dom neg causing misfolded protein

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6
Q

What is the most common mutation causing achrondroplasia?

A

FGFR3 p.Gly380Arg

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7
Q

What skeletal dysplasia syndrome can cause facial hair growth of the pregnant person carrying an affected fetus?

A

Antley Bixler
POR gene- cytochrome P450- makes steroids, including sex hormones –> virilizes the pregnant person

FGFR2 can cause Antley Bixler- skeletal features only!

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8
Q

What are typical laboratory findings in lipoprotein lipase deficiency?

A

high triglycerides (leads to pancreatitis) and lipase

normal cholesterol

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9
Q

What is the most common cause of transposition of the great arteries?

A

maternal diabetes

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10
Q

What are common features of Holt Oram syndrome?

A

holes in heart- ASD or VSD
radial ray anomalies - absent thumbs
L arm > R arm

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11
Q

What heart condition is characterized by L ventricular dilation and reduced EF?

A

DCM

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12
Q

What is the common HFE mutation?

A

C282Y
homozygous penetrance <40% (women even lower)

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13
Q

What is typical presentation of beta thalassemia at birth?

A

none, normal first six months because HbF is still protective

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14
Q

What is the appropriate next step following high risk NIPS and normal US findings?

A

amniocentesis
-CVS not appropriate

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14
Q

Do in frame or out of frame deletions cause DMD?

A

out of frame deletions –> disrupt reading frame –> no fxnl protein = DMD

in frame deletions = BMD

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14
Q

What condition is consistent with hypoplasia of the cerebellar vermis and elongation of the cerebellar peduncles?

A

molar tooth sign = Joubert

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15
Q

What condition is steroid sulfatase deficiency characteristic of?

A

XL icthyosis

also, decreased uE3 on serum screening

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16
Q

Which MMR genes form heterodimers?

A

MLH1 + PMS2
MSH2 + MSH6

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17
Q

Which MMR genes are obligate and will still be present if their partners are absent from staining?

A

MLH1 and MSH2

but if MLH1 and MSH2 absent so will be PMS2 and MSH6

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18
Q

What cancer syndrome is associated with desmoid tumors?

A

FAP

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19
Q

What cancer syndrome is associated with jaw cysts?

A

PTCH1 Gorlin syndrome

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20
Q

What is the cutoff for 5 year risk for chemoprevention?

A

> 1.6%

not if:
-hx breast cancer
-mut +
-<35

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21
Q

How do PARP inhibitors function?

A

block single strand DNA repair- kills cancer cells for BRCA because BRCA genes involved with double strand break repair

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22
Q

What are findings of SRY translocation?

A

infertility, small testes, gynecomastia
80% of non syndromic 46 XX due to

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23
Q

What percent of non syndromic 46 XX DSD are due to SRY translocation?

A

80%

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24
Q

What type of mutations lead to classic vs mild-moderate PKU?

A

biallelic LOF- classic
1 LOF, 1 missense -mild-moderate
bilallelic missense- benign hyperphenylalanine

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25
Q

What condition is associated with a rotten cabbage smell?

A

tyrosinemia

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26
Q

What causes del/dups at mutational hotspots?

A

LCRs –> misalignment during non-allelic non homologous recombination

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27
Q

What is the genetic cause of Pallister Killian?

A

mosaic tetrasomy 12p

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28
Q

What causes hydrops fetalis?

A

anemia and subsequent heart failure

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29
Q

With confined placental mosaicism, what is their an increased risk of?

A

UPD!
diploidy (correct amount) results from trisomy rescue to give viable fetus, possibility of UPD if two chromosomes from same parent are kept

30
Q

What are some causes of false positives on NIPS?

A

confined placental mosaicism, vanishing twin, maternal mosaicism, maternal cancer

31
Q

What are common features of Pallister- Hall?

A

post axial polydactyly, laryngeal cleft, hypothalmic hamartomas

32
Q

What is the most common gene causing familial thoracic aortic aneurysms?

A

ACTA2

33
Q

How would you differentiate the two conditions which cause facial port wine stains through somatic mosaic variants?

A

Klippel Trenaunay- PIK3CA: limb hypertrophy, varicose veins

Sturge Weber - GNAQ: leptomeningeal angiomatosis, seizures, glaucoma

34
Q

If a patient has anemia (Hgb <12), what conditions would you consider on the differential if it is microcytic (MCV <80)?

A

alpha or beta thal
sideroblastic anemia

35
Q

If a patient has anemia (Hgb <12), what conditions would you consider on the differential if it is normocytic (MCV 80-100)?

A

sickle cell
G6PD
spherocytosis
pyruvate kinase deficiency

36
Q

If a patient has anemia (Hgb <12), what conditions would you consider on the differential if it is macrocytic (MCV >100)?

A

Fanconi anemia
Diamond blackfan anemia
MTHFR

37
Q

How would you differentiate a congenital presentation of SMA vs Pompe disease?

A

Pompe disease with HCM and elevated CK, SMA without cardiac features and normal CK

38
Q

How does spinraza treat SMA?

A

promotes includes of SMN2 exon 7
–> increases functional protein

39
Q

What is the most common cause of death in Freidreich’s ataxia?

A

cardiomyopathy

40
Q

What is a common laboratory elevation in ataxia telangiectasia?

A

elevated AFP

also high CEA
Low IgG, IgA, IgE

41
Q

What are the effects of different types of variants in GJB2 on inheritance patterns?

A

frameshift variants (35delG)
–> AR

missense variants
–> AD (dominant negative effect)

42
Q

What are genetic causes for isolated cataracts in infancy?

A

AD or AR variants in crystallin genes, presentation at or after birth

galactokinase deficiency, isolated cataracts, develops after birth only

43
Q

Which MPS disorder is NOT characterized by CNS features?

A

MPS IV Morquio

44
Q

What is the coefficient of inbreeding for cousins?

A

1/16
think 1/ (2^ number of people)

45
Q

What is the resolution of karyotype, FISH, and CMA?

A

~
Karyotype: as small as 3-5 mb
FISH: 100-200 kb
CMA: as small as 50-100 kb

46
Q

When does the NDJ event causing a 47, XYY karyotype occur?

A

only paternal MII

47
Q

When does an event causing a mosaic karyotype occur?

A

mitosis very early in embyronic development

48
Q

In what region of FMR1 is the tri-nucleotide repeat causing FMR1 related disorders?

A

promotor region

49
Q

In what region of DMPK is the tri-nucleotide repeat causing the symptoms of myotonic dystrophy type 1?

A

3’ UTR

50
Q

When does the neural tube close?

A

week 4 development = week 6 GA

51
Q

What sequence of the BRCA1 gene does the active estrogen receptor bind to?

A

consensus sequences at -35 and -10

52
Q

What are the stop codons?

A

UAA
UAG
UGA

53
Q

What pathway of repair is functional BRCA1 protein involved in ?

A

recombination repair

54
Q

What is the criteria to diagnose NF1?

A

> =2 of the following criteria:

  • > = 6 CALs >5 mm pre puberty of 15 mm post
  • axillary / inguinal freckling
  • > = 2 neurofibromas or 1 plexiform
  • optic pathway glioma
  • > = 2 Lisch nodules or >= 2 choirodal abnormalities
  • distinctive osseus lesions (sphenoid dysplasia, anterolateral bowing of tibiba, pseudoarthritis of long bones)
  • parent (not FDR) who meets dx criteria
  • germline variant
55
Q

What is the criteria to diagnose Marfan syndrome?

A

FBN1 variant + aortica root enlargement OR ectopic lentis

56
Q

In what scenarios is a PTEN dx considered in children?

A

macrocephaly + any of the following:
- autism or delays
- dermatologic features
- vascular features
- GI polyps
- thyroid or germ cell cancer

57
Q

How is Cowden syndrome diagnosed clinically?

A

1 pathognomonic
OR
>= 2 major
OR
1 major + >=3 minor
OR
>=4 minor

58
Q

What are pathgnomonic features of Cowden syndrome?

A
  • > = 6 facial papules where >=3 are trichelommas
  • cutaneous facial papules and oral mucosa papules
  • oral mucosa papules and acral keratosis
  • > = 6 palmoplantar keratoses
59
Q

What are considered major features of Cowden syndrome?

A
  • breast cancer
  • non medullary thyroid cancer
  • macrocephaly
  • endometrial cancer
60
Q

What are considered minor features of Cowden syndrome?

A
  • other thyroid nodules
  • ID
  • hamartomatous polyps
  • breast fibrocystic disease
  • lipomas
  • fibromas
  • GI tumors especially RCC
  • GI malformations
  • uterine fibroids
61
Q

If a family member meets criteria for Cowden syndrome, what does another relative need for a clinical dx?

A

Fhx
+
1 pathognomonic
OR
1 major
OR
2 minor
OR hx BRR syndrome

62
Q

What is the criteria to diagnose TSC?

A

pathogenic variant
OR
2 major features
OR
1 major 2 minor

63
Q

What are considered major features of TSC?

A
  • > = 3 angiofibromas or fibrous cephalic plaques
  • cardiac rhabdo
  • multiple cortical tumors or radial migration lines
  • > = 3 5mm hypomelanotic macules
  • lymphangioleiomyomatosis
  • multiple retinal nodular hamartomas
  • > = 2 renal angiomyoplipomas
  • shagreen patch
  • subependymal giant cell astrocytoma
  • > = 2 subependymal nodules
  • ungual fibromas
64
Q

What are considered minor features of TSC?

A
  • sclerotic bone lesions
  • confetti skin lesions
  • > =3 dental enamel pits
  • > = 2 intraoral fibromas
  • multiple renal cysts
  • nonretinal hamartomas
  • retinal chromic patch
65
Q

How is a clinical dx of Fragile X ataxia syndrome made?

A

premutation carrier
+
1 major clinical sign
(intention tremor, gait ataxia)
+
1 major radiograph sign
(MRI white matter lesions- MCP sign)

66
Q

What sphingolipodoses disorder is XL?

A

Fabry (GLA)

67
Q

What genes cause Fabry, Gaucher, and Pompe disease?

A

Pompe - GAA = GSDII
Gaucher- GBA (Bone pain)
Fabry - GLA (x Linked)

68
Q

What is the difference in copper buildup in Wilson vs Menkes disease?

A

Menkes: copper not transported well from blood, so high levels in blood but low in organs
Wilson: not transported well from liver, so buildup in liver/ organs, can have low levels in blood

69
Q

What DSD is XL?

A

adrenal hypoplasia congenita (NR0B1)

70
Q

What is the most common inheritance for a condition characterized by sparse scalp/body hair, reduced ability to sweat, and congenital absence of teeth?

A

XL, EDA

71
Q

What are possible genes/ inheritance patterns for Emery-Dreifuss?

A

most common- unknown 63%
LMNA 27% (AD or AR)
EMD 8% (XL)
FHL1 (1%) (XL)

72
Q

What is the deficiency in Fabry disease?

A

alpha galactosidase

73
Q

What is the deficiency in Gaucher disease?

A

glucocerebrosidase

74
Q

What enzyme is deficiency in Tay Sachs?

A

beta hexaminosidase - A

75
Q

What gene and additional phenotype may be included in individuals with Prader willi syndrome cause by a larger 7 mb deletion vs a 5 mb deletion?

A

OCA2 - hypopigmentation of hair, skin, eyes

Genetic Counseling Boards Prep 2023 (13 decks)

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