Term
| What percent risk is associated with Autosomal Dominant disorders being passed on to children of an affected parent? |
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Definition
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Term
| In what kind of inheritance pattern could you see father to son transmission of a disease? |
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Definition
Autosomal Dominant
(or Y-linked) |
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Term
True or False?
X-linked traits show up more frequently in females. |
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Definition
False
- Show up more commonly in males
- only one X so no second to compensate |
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Term
What autosomal dom. disease is associated with:
axillary or inguinal freckles
cafe au lait spots
long bone abnormalities
optic nerve gliomas
spinal cord tumors |
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Definition
Neurofibromatosis
- also includes development of neurofibromas anywhere on body
- commonly includes macrocephaly, mild LD, scoliosis |
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Term
True or False:
There is no father-to-son transmission of either X-linked recessive genes, nor X-linked dominant genes. |
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Definition
True
-Affected males have carrier daughters for XLR
and affected daughters for XLD |
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Term
What disease am I?
long, narrow face & prominent ears
enlarged testes
mental retardation
high, narrow palate |
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Definition
Fragile X syndrome
- not purely X-linked
- X-linked due to triplet repeat expansion upstream of FRAXA gene
- seen more in boys w/ accompanying MR but can occur in girls with accompanying LD |
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Term
What disease am I?
- delayed dental eruption
- dentinogenesis imperfecta
- increased risk for fractures
- blue sclera
- hearing loss
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Definition
OI
(osteogenesis imperfecta)
severity: II>III>IV>I
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Term
Which subtype of OI is caused by new collagen mutations?
Which is caused by decreased collagen production? |
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Definition
Type II caused by new mutations (usually fatal)
Type I is caused by decreased production (least severe) |
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Term
What disease is caused by a deletion of 7q?
What are its symptoms? |
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Definition
Williams syndrome
hypercalcemia
periorbital fullness & full lips
moderate MR
narrowing of aorta (supravalvular aortic stenosis)
exceptional musical and verbal skills |
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Term
What disease is caused by a deletion of 22q11?
What are its symptoms? |
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Definition
DiGeorge/velo-cardio-facial syndrome
hypocalcemia
long, narrow face
mild MR or LD
T-cell defects --> immunodeficiency
conotruncal heart defects |
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Term
Which type of Trisomy am I?
- polydactyly
- holoprosencephaly
- seizures
- severe MR and poor survival |
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Definition
Trisomy 13
- also includes micro-opthalmia & IUGR |
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Term
Which Trisomy am I?
- bird-like faces
- clenched fists
- rocker-bottom feet
- sever MR and poor survival |
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Definition
Trisomy 18
- also inclued IUGR |
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Term
What disease am I?
- Autosomal dominant with incomplete penetrance for clefts
- Clefting with associated lip bumps or pits
- hypodontia, usually anteriors or bicuspids |
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Definition
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Term
Which sex chromosome variation am I?
- short stature
-ovarian dysgenesis
- webbed neck
- coarctation of aorta
- possible LD or spatial disabilities |
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Definition
Turner Syndrome (XO)
- can include edema of hands & feet at birth |
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Term
Which sex chromosome variation am I?
- tall stature
- infertility
- gynecomastia
- mild LD
- increased risk for behavioral problems |
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Definition
Klinefelter syndrome (XXY) |
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Term
Which sex chromosome variation am I?
- normal physiological features & fertility
- mild LD
- possible early menopause
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Definition
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Term
Which sex chromosome variation am I?
- tall stature
- normal physiologcial appearance & fertility
- mild LD
- increased risk for behavioral problems |
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Definition
XYY syndrome
- caused by non-disjunction of a sperm cell |
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Term
Erysipelas is caused by what infectious bacteria?
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Definition
Erysipelas = red skin
caused by Strep. pyogenes |
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Term
Compare and contrast :
PGI2 (prostacyclin)
TXA2 (thromboxane) |
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Definition
-Both are eicosanoids, part of the COX pathway
- prostacyclin
-produced by endothelial cells
- vasodilation, decreased platelet aggregation
thromboxane
- produced by platelets
- vasoconstriction, increased platelet aggregation |
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Term
How are Langhans giant cells formed?
What type of cell injury are they found in? |
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Definition
- formed by the fusing together of epithelioid cells (activated macrophages)
- found in granulomatous inflammation |
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Term
| What are vegetations and where are they located? |
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Definition
They are thrombi that develop on cardiac valves.
also known as verrucae |
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Term
| Are lines of Zahn found on arterial or venous thrombi? |
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Definition
Arterial thrombi
- alternating layers of fibrin and darker red cells |
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Term
| Where do most pulmonary embolisms originate from? |
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Definition
| From deep leg veins, such as iliac, femoral or popliteal |
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Term
| Most thromboemboli that end up in the brain or lower extremities originate from _______. |
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Definition
| left ventricular mural thrombi |
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Term
What type of necrosis occurs in the brain in response to an infarct? |
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Definition
liquefactive necrosis
- heals by cavitation |
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Term
| In most organs infarction leads to which type of necrosis? |
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Definition
coagulative necrosis
- brain is exception |
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Term
| Oliguria is found in which stage of shock? |
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Definition
in the nonprogressive stage
- fluid conservation by the kidney to help maintain b.p. |
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Term
| Aromatic amines, as are used in the leather and dye industries, are associated with what type of cancer? |
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Definition
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Term
| Exposure to vinyl chlorides, as in the synthesis of polyvinyl resins, is associated with which type of cancer? |
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Definition
| Hemangiosarcoma or angiosarcoma of the liver |
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Term
| Azo dyes and aflatoxin are both associated with which type of cancer? |
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Definition
liver cancer
(hepatocarcinoma)
- both are indirect acting |
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Term
| Epstein-Barr virus is associated with 3 types of cancer - what are they? |
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Definition
African Burkitt lymphoma
HIV-associated lymphoma
nasopharyngeal cancer |
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Term
Would expression of E-cadherin be downregulated or upregulated in cancer cells?
What about cathepsin D? |
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Definition
E-cadherin responsible for intercellular attachment --> downregulated in cancer cells
cathepsin D a proteolytic enzyme needed for membrane degradation and metastasis
--> upregulated in cancer cells |
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Term
Monoclonal immunoglobin is used as a serologic assay for which type of cancer?
What about prostatic acid phosphatase? |
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Definition
monoclonal immunoglobin - multiple myeloma
prostatic acid phosphatase - metastatic prostate cancer |
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Term
| A positive Prussian blue reaction stains for what intracellular accumulation? |
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Definition
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