Genetics Flashcards
1
Q
Alport syndrome
A
- glomerulonephritis
- hearing loss
- eye problems
- esophageal leiomyomatosis
- female genital tract leiomyomatosis
2
Q
Carney triad
A
- extraadrenal paraganglioma (retroperitoneal, mediastinal, intraspinal, carotid body)
- GIST (usu gastric, often multifocal)
- pulmonary chondroma
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
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
5
Q
SAPHO syndrome
A
synovitis acne pustulosis hyperostosis osteitis
(esp sternoclavicular region & spine)
6
Q
CHARGE syndrome
A
coloboma heart defects atresia (choanal) retardation of growth & development genital and/or urinary abN ear abN and/or deafness
7
Q
Meckel Gruber syndrome
A
cystic renal dysplasia
occipital encephalocele/holoprosencephaly
postaxial polydactyly
8
Q
HHT - inheritance pattern
A
hereditary hemorrhagic telangiectasia
autosomal dominant
9
Q
McCune-Alright
A
- polyostotic fibrous dysplasia
- endocrine dysfunction
- sexual precocity
- cutaneous pigmentation (cafe-au-lait spots)
10
Q
Mazabraud syndrome
A
- polyostotic fibrous dysplasia
- intramuscular myxomas
11
Q
Pendred’s Syndrome
A
- pendrin gene
- 7q31
- enlarged vestibular aqueduct syndrome
- goiter
- autosomal recessive
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)
13
Q
OEIS syndrome
A
omphalocele
exstrophy
imperforate anus
spinal defects
14
Q
Williams Campbell syndrome
A
Congenital cystic bronchiectasis from deficiency of cartilage in 4-6th order bronchi
15
Q
Caplan syndrome
A
Rheumatoid arthritis + upper lobe predominant lung nodules
- nodules May cavitate
- can have effusion
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
17
Q
Gardner syndrome
A
Auto dominant APC 5q22 Multiple Osteomas Intestinal polyps Dental lesions Fibromatosis Skin lesions Sebaceous cysts and fibromas
18
Q
CADASIL gene
A
NOTCH3
19
Q
Alexander disease gene
A
GFAP gene
20
Q
Retinoblastoma gene
A
RB suppressor gene
Chromosome 13
Osteosarcoma gene as well
21
Q
BRCA 1
A
Chromosome 17
More common
Higher risk breast ca women (72%)
Increased risk breast, ovary, GI cancers
22
Q
BRCA 2
A
Chromosome 13
Higher risk breast ca males
breast ca women (69%)
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
hereditary diffuse gastric cancer syndrome
gastric cancer 70% (prophylactic gastrectomy)
| lobular breast cancer ~40%
26
Apert's Syndrome
```
brachycephaly (coronal synostosis)
fused fingers (syndactyly)
```
27
Crouzon's Syndrome
```
brachycephaly (coronal synostosis)
1st arch structures - maxilla/mandible hypoplasia
PDA & aortic coarctation
short central long bones (rhizomelia)
chiari I malformation
```
28
associations with choanal atresia
```
CHARGE
Crouzon's
DiGeorge
Treacher Collins
FAS
```
29
CHARGE findings
```
Coloboma
Heart defect
Atresia (choanal)
Retarded growth
GU abN
Ear anomalies
```
30
PHACES syndrome
```
Posterior fossa (dandy walker)
Hemangiomas
Arterial anomalies
Coarctation of the aorta, cardiac defects
Eye abnormalities
Subglottic hemangioma
```
31
shwachman diamond
```
#2 cause pancreatic insufficiency in children
fatty pancreatic replacement/lipomatous pseudo hypertrophy
diarrhea, short stature, eczema
```
32
Alagille Syndrome
- hereditary cholestasis 2/2 paucity intrahepatic bile ducts
| - peripheral pulmonary stenosis
33
Eagle Barrett Syndrome (prune belly)
- deficient abdo musculature
- hydroureteronephrosis
- cryptorchidism
34
Beckwith Wiedemann (overgrowth)
```
macroglossia
omphalocele
hemihypertrophy
cardiac
big organs
wilms
hepatoblastoma
```
35
WAGR
Wilms
Aniridia
Genital
growth Retardation
36
Drash
- wilms
- pseudohermaphroditism
- progressive glomerulonephritis
37
Sotos Syndrome (overgrowth)
- macrocephaly
- CNS stuff
- hypertelorism, elongated forehead
38
Neuroblastoma associations
NF1
hirschprungs
digeorge
beckwith Wiedemann
39
Pyknodysostosis
osteopetrosis
workman bones
acro osteolysis
wide/obtuse angle mandible
40
Klippel Feil
congenital fusion cervical spine
sprengel deformity (high ride scapula)
omnovertebral bone
41
Gaucher's
```
MC lysosomal storage disease
big spleen/liver
AVN femoral heads
H shaped vertebrae
bone infarcts
Erlenmeyer flask shaped femurs
```
42
Currarino Triad
1. anterior sacral meningocele
2. anorectal malformation
3. sacroccocygeal osseous defect (scimitar sacrum)
43
syndromes associated with male infertility
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
tubrous sclerosis
- 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
carney complex
- cardiac myxomas
- hyperpigmented skin lesions
- extracardiac tumors - pit adenoma, breast fibroadenoma, melanotic schwannoma
46
association cardiac rhabdomyoma kids
tuberous sclerosis
| - often regress spontaneously
47
jaffe campanacci
- multiple NOF
- cafe au lait macules
- mental retardation
- jaw tumors
- ocular & CV malformations
- cryptorchidism
48
mazabraud
- fibrous dysplasia
| - intramuscular myxomas
49
maffucci
- multiple enchondromas
| - soft tissue hemangiomas/phleboliths
50
ollier
- multiple enchondromas
51
CLOVES
congenital lipomatous overgrowth with vascular malformations, epidermal nevi, & skeletal anomalies
52
Gorham Stout
- vanishing bone disease
| - progressive regional osteolysis w/ infiltrative lymphatic malformation & osteoclastic activity
53
PHACE
```
posterior fossa anomaly
hemangioma
arterial anomaly
cardiac anomaly
eye anomaly
```
54
MEN1
```
pituitary adenoma (MC prolactinoma)
parathyroid hyperplasia, adenoma, carcinoma
pancreatic tumor (islet cell, MC gastrinoma)
```
1 letter in MEN1: PiParaPanc
55
MEN 2A
medullary thyroid carcinoma
pheochromocytoma
parathyroid hyperplasia
1 M, 2 P’s
MEN2A has A’s: Adrenal, Aggressive thyroid Ca, A lot of calcium
56
MEN 2B
medullary thyroid cancer
mucosal neuromas/ganglioneuroma
Marfinoid habitus
pheochromocytoma
3 M’s, 1 P
57
gene in GIST tumor
cKIT mutation
