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RRC Cards > Genetics > Flashcards

Genetics Flashcards

1
Q

Alport syndrome

A
  • glomerulonephritis
  • hearing loss
  • eye problems
  • esophageal leiomyomatosis
  • female genital tract leiomyomatosis
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2
Q

Carney triad

A
  • extraadrenal paraganglioma (retroperitoneal, mediastinal, intraspinal, carotid body)
  • GIST (usu gastric, often multifocal)
  • pulmonary chondroma
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3
Q

Li-Fraumeni syndrome

A

P53 mutation

sarcomas (rhadomyo, osteo)
early breast cancer
CNS (glioma, CPC, medulloblastoma)
adrenocortical carcinoma (esp in childhood)
leukemia
melanoma
inc risk of radiation-induced cancers
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4
Q

PHACE syndrome

A 
posterior fossa malf: Dandy Walker
hemangioma (infantile): face, subglottic
arterial (cerebral) abN: dysplasia, hypoplasia, stenosis, occlusion, aneurysm 
cardiac abN (VSD), coarctation
eye abN
sternal clefts, supraumbilical raphe
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5
Q

SAPHO syndrome

A 
synovitis
acne
pustulosis
hyperostosis
osteitis

(esp sternoclavicular region & spine)

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6
Q

CHARGE syndrome

A 
coloboma
heart defects
atresia (choanal)
retardation of growth & development 
genital and/or urinary abN
ear abN and/or deafness
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7
Q

Meckel Gruber syndrome

A

cystic renal dysplasia
occipital encephalocele/holoprosencephaly
postaxial polydactyly

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8
Q

HHT - inheritance pattern

A

hereditary hemorrhagic telangiectasia

autosomal dominant

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9
Q

McCune-Alright

A
  • polyostotic fibrous dysplasia
  • endocrine dysfunction
  • sexual precocity
  • cutaneous pigmentation (cafe-au-lait spots)
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10
Q

Mazabraud syndrome

A
  • polyostotic fibrous dysplasia

- intramuscular myxomas

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11
Q

Pendred’s Syndrome

A
  • pendrin gene
  • 7q31
  • enlarged vestibular aqueduct syndrome
  • goiter
  • autosomal recessive
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12
Q

Gorlin Syndrome

A

aka basal cell nevus syndrome

  • mutations in the PTCH tumor suppressor gene
  • auto dominant
  • multiple basal cell carcinomas (BCCs)
  • odontogenic keratocysts (jaw cysts)
  • medulloblastoma
  • fused or bifid ribs
  • kyphoscoliosis
  • macrocephaly
  • ovarian fibromas
  • palmar and/or plantar pits
  • ectopic calcifications of the falx cerebri (dural calcs)
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13
Q

OEIS syndrome

A

omphalocele
exstrophy
imperforate anus
spinal defects

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14
Q

Williams Campbell syndrome

A

Congenital cystic bronchiectasis from deficiency of cartilage in 4-6th order bronchi

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15
Q

Caplan syndrome

A

Rheumatoid arthritis + upper lobe predominant lung nodules

  • nodules May cavitate
  • can have effusion
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16
Q

Doege Potter syndrome

A

Not congenital
5% ppl with solitary fibrous tumor of the pleura
Episodic hypoglycaemia
Tumor secretes insulin like growth factor

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17
Q

Gardner syndrome

A 
Auto dominant 
APC 5q22
Multiple Osteomas
Intestinal polyps 
Dental lesions 
Fibromatosis 
Skin lesions 
Sebaceous cysts and fibromas
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18
Q

CADASIL gene

A

NOTCH3

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19
Q

Alexander disease gene

A

GFAP gene

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20
Q

Retinoblastoma gene

A

RB suppressor gene
Chromosome 13
Osteosarcoma gene as well

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21
Q

BRCA 1

A

Chromosome 17
More common
Higher risk breast ca women (72%)
Increased risk breast, ovary, GI cancers

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22
Q

BRCA 2

A

Chromosome 13
Higher risk breast ca males
breast ca women (69%)

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23
Q

Cowden syndrome

A

Breast cancer
Follicular thyroid
Endometrial
Lhermitte Duclos

24
Q

screening in cowden syndrome

A

mammography (most common cancer)

annual thyroid

25
Q

hereditary diffuse gastric cancer syndrome

A

gastric cancer 70% (prophylactic gastrectomy)

lobular breast cancer ~40%

26
Q

Apert’s Syndrome

A 
brachycephaly (coronal synostosis)
fused fingers (syndactyly)
27
Q

Crouzon’s Syndrome

A 
brachycephaly (coronal synostosis)
1st arch structures - maxilla/mandible hypoplasia
PDA & aortic coarctation
short central long bones (rhizomelia)
chiari I malformation
28
Q

associations with choanal atresia

A 
CHARGE
Crouzon's
DiGeorge
Treacher Collins
FAS
29
Q

CHARGE findings

A 
Coloboma
Heart defect
Atresia (choanal)
Retarded growth
GU abN
Ear anomalies
30
Q

PHACES syndrome

A 
Posterior fossa (dandy walker)
Hemangiomas
Arterial anomalies
Coarctation of the aorta, cardiac defects
Eye abnormalities
Subglottic hemangioma
31
Q

shwachman diamond

A 
#2 cause pancreatic insufficiency in children
fatty pancreatic replacement/lipomatous pseudo hypertrophy
diarrhea, short stature, eczema
32
Q

Alagille Syndrome

A
  • hereditary cholestasis 2/2 paucity intrahepatic bile ducts

- peripheral pulmonary stenosis

33
Q

Eagle Barrett Syndrome (prune belly)

A
  • deficient abdo musculature
  • hydroureteronephrosis
  • cryptorchidism
34
Q

Beckwith Wiedemann (overgrowth)

A 
macroglossia
omphalocele
hemihypertrophy
cardiac
big organs
wilms
hepatoblastoma
35
Q

WAGR

A

Wilms
Aniridia
Genital
growth Retardation

36
Q

Drash

A
  • wilms
  • pseudohermaphroditism
  • progressive glomerulonephritis
37
Q

Sotos Syndrome (overgrowth)

A
  • macrocephaly
  • CNS stuff
  • hypertelorism, elongated forehead
38
Q

Neuroblastoma associations

A

NF1
hirschprungs
digeorge
beckwith Wiedemann

39
Q

Pyknodysostosis

A

osteopetrosis
workman bones
acro osteolysis
wide/obtuse angle mandible

40
Q

Klippel Feil

A

congenital fusion cervical spine
sprengel deformity (high ride scapula)
omnovertebral bone

41
Q

Gaucher’s

A 
MC lysosomal storage disease
big spleen/liver
AVN femoral heads
H shaped vertebrae
bone infarcts
Erlenmeyer flask shaped femurs
42
Q

Currarino Triad

A
  1. anterior sacral meningocele
  2. anorectal malformation
  3. sacroccocygeal osseous defect (scimitar sacrum)
43
Q

syndromes associated with male infertility

A
  1. pituitary adenoma (prolactin)
  2. kallman syndrome (can’t smell, infertile)
  3. klinefelter syndrome (tall, gynecomastia, infertile)
  4. zinner syndrome (renal agenesis, ipsilat sem vesicle cyst)
  5. cystic fibrosis
44
Q

tubrous sclerosis

A
  • autosominal dominant w/ high but variable penetrance
  • clinical triad = facial angiofibroma, low IQ, seizures
  • SENs, subcortical tubers, SEGA
  • renal AML & cyst
  • cardiac rhabdomyoma
  • retinal astrocytoma
  • giant ocular drusen
  • cystic LAM
  • skin pigmentation defects, facial angiofibroma
45
Q

carney complex

A
  • cardiac myxomas
  • hyperpigmented skin lesions
  • extracardiac tumors - pit adenoma, breast fibroadenoma, melanotic schwannoma
46
Q

association cardiac rhabdomyoma kids

A

tuberous sclerosis

- often regress spontaneously

47
Q

jaffe campanacci

A
  • multiple NOF
  • cafe au lait macules
  • mental retardation
  • jaw tumors
  • ocular & CV malformations
  • cryptorchidism
48
Q

mazabraud

A
  • fibrous dysplasia

- intramuscular myxomas

49
Q

maffucci

A
  • multiple enchondromas

- soft tissue hemangiomas/phleboliths

50
Q

ollier

A
  • multiple enchondromas
51
Q

CLOVES

A

congenital lipomatous overgrowth with vascular malformations, epidermal nevi, & skeletal anomalies

52
Q

Gorham Stout

A
  • vanishing bone disease

- progressive regional osteolysis w/ infiltrative lymphatic malformation & osteoclastic activity

53
Q

PHACE

A 
posterior fossa anomaly
hemangioma
arterial anomaly
cardiac anomaly
eye anomaly
54
Q

MEN1

A 
pituitary adenoma (MC prolactinoma)
parathyroid hyperplasia, adenoma, carcinoma
pancreatic tumor (islet cell, MC gastrinoma)

1 letter in MEN1: PiParaPanc

55
Q

MEN 2A

A

medullary thyroid carcinoma
pheochromocytoma
parathyroid hyperplasia

1 M, 2 P’s

MEN2A has A’s: Adrenal, Aggressive thyroid Ca, A lot of calcium

56
Q

MEN 2B

A

medullary thyroid cancer
mucosal neuromas/ganglioneuroma
Marfinoid habitus
pheochromocytoma

3 M’s, 1 P

57
Q

gene in GIST tumor

A

cKIT mutation

RRC Cards (17 decks)

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