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GENETICS MNEMONICS IN PATHOLOGY
ADult Polycystic Kidney Disease: genetics ADult Polycystic Kidney Disease is Autosomal Dominant

Also, "Polycystic kidney" has 16 letters and is due to a defect on chromosome 16.

Achrondroplasia dwarfism: inheritance pattern Achondroplasia
Dwarfism is Autosomal Dominant.
Bartter syndrome inheritance : BARtter syndrome is Autosomal Recessive (AR).
Cell cycle stages : "Go Sally Go! Make Children!"
G1 phase (Growth phase 1)
S phase (DNA Synthesis)
G2 phase (Growth phase 2)
M phase (Mitosis)
Cphase (Cytokinesis)
Chromosome 15 diseases : Chromosome 15 has its own "MAP"
M - Marfan syndrome
A - Angelman syndrome
P - Prader-Willi syndrome
Codons; Nonsense Mutation : "Stop talking nonsense!"
Nonsense mutation causes premature Stop.
Cri-du-chat Syndrome: chromosomal deletion causing it is 5p(-)
Whats another name for a cat thats five letters long and starts with a P? (Answer: pussy).
Why is the cat crying? Missing its P.
DNA probes available for prenatal diagnosis : "ABCDEFGH Probes"
A - Alpha globin probe: alpha thalassaemia, polycystic kidney Alpha 1 AT probe: alpha-1 anti-trypsin deficiency
B - Beta globin probe: beta thalassaemia, sickle cell anaemia
C - CFTCR probe: cystic fibrosis
D - Dystrophin probe: Duchenne's modystrophy
E - Enormous CAG repeat probe: Huntington's disease
F - Factor VIII probe: haemophilia A
G - GH probe: growth hormone deficiency
H - Hemochromatosis probe: hemochromatosis
Probes - PAH probe: phenylketonuria
DNA, Z vs. B form: Which is inactive?
ZZZZ is sleeping (inactive).
B form is therefore active DNA.
DiGeorge/Velocardiofacial syndrome, features : "CATCH 22"
C - Cardiac abnormalities
A - Abnormal facies
T - Thymic aplasia
C - Cleft palate
H - Hypocalcemia
22 - 22q11 deletion
Down syndrome features Complete : "my CHILD HAS PROBLEM!"
C - Congenital heart disease/Cataracts
H - Hypotonia/Hypothyroidism
I - Incure 5th finger/Increased gap between 1st and 2nd toe
L - Leukemia risk x2/Lung problem
D - Duodenal atresia/Delayed development
H - Hirshsprung's disease/Hearing loss
A - Alzheimer's disease/Alantoaxial instability
S - Squint/Short neck
P - Protruding tongue/Palm crease
R - Round face/Rolling eye (nystagmus)
O - Occiput flat/Oblique eye fissure
B - Brushfield spot/Brachycephaly
L - Low nasal bridge/Language problem
E - Epicanthic fold/Ear folded
M - Mental retardation/Myoclonus
Down syndrome pathology : "DOWN"
D - Decreased alpha-fetoprotein and unconjugated estriol (maternal)
O - One extra chromosome twenty-one
W - Women of advanced age
N - Nondisjunction during maternal meiosis
Exon vs. Intron function : Exons Expressed.
InTrons In Trash.
Exon vs. Intron function : Exons Expressed.
InTrons In Trash.
Hardy-Weinberg equilibrium causes for deviations from it : "My Mom Does Not Smoke"
• Mutations
• Migration
• Drift
• Non-random mating
• Selection
Hurler's Syndrome Symptoms : "BLUFF"
B - Blind (corneal opacity)
L - Little (dwarfish)
U - Ugly (coarse facial features)
F - Fool (mental retardation)
F - Failures (failure to thrive and hear failure secondary to coronary artery disease)
Marfan syndrome features : "MARFANS"
M - Mitral valve prolapse
A - Aortic Aneurysm
R - Retinal detachment
F - Fibrillin
A - Arachnodactyly
N - Negative Nitroprusside test (differentiates from homocystinuria)
S - Subluxated lens
Nucleotides purines : "AGUA PURa"
Adenine and GUAnine are PURines.
"Agua pura" is spanish for "pure water".
Nucleotides ; class having the single ring : "Pyrimadines are CUT from purines"
Pyrimidines are:
C - Cytosine
U - Uracil
T - Thiamine

They are cut from purines so the pyrimadines must be smaller (one ring).

Nucleotides ; Double vs. Triple bonded base pairs : "TU bonds" (two bonds)
T-A and U-A have Two bonds.
G-C therefore has the three bonds.
Nucleotides: Purines vs. Pyrimidines : "Guardian Angels are Pure, with two Wings"
G and A are Purines, with two Rings.
Pedigree Symbols ; gender and affected Gender: The cIRcle is a gIRl (so boys are squares) .

Affected: Black plague was a disease, so black-filled symbol means an affected/diseased person (so non-filled-in is unaffected).

Tay Sach's features : "SACHS"
S - Spot in macula
A - Ashkenazic Jews
C - CNS degeneration
H - Hex A deficiency
S - Storage disease

Extra details with TAY: Testing recommended Autosomal recessive/Amaurosis Young death (<4 yrs)

Tumor suppressor vs. proto-onogene mutations: Recessive vs. Dominant
"Recess Suppress"
Tumor suppressor mutations are recessive.
Proto-oncogenes are opposite (dominant).
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