Achrondroplasia dwarfism: inheritance pattern [ID 426]
Achondroplasia Dwarfism is Autosomal Dominant.
Knowledge Level 6, System: Endocrine
Robert O'Connor University College Dublin
APKD: genetics [ID 959]
ADult Polycystic Kidney Disease is
Autosomal
Dominant
_ Also, "Polycystic kidney" has 16 letters and is due to a defect on chromosome 16.
Knowledge Level 5, System: Kidney/Urine
Anonymous Contributor
Bartter syndrome: inheritance [ID 1310]
BARtter syndrome is autosomal recessive (AR).
Knowledge Level 8, System: Kidney/Urine
Anonymous Contributor
DiGeorge/ Velocardiofacial syndrome: features Hi Yield [ID 1041]
CATCH 22:
Cardiac abnormalities
Abnormal facies
Thymic aplasia
Cleft palate
Hypocalcemia
22q11 deletion
Knowledge Level 7, System: Lymphoid
Anonymous Contributor
Tumor suppressor vs. proto-onogene mutations: recessive vs. dominant [ID 252]
"Recess Suppress":
Tumor suppressor mutations are recessive.
Proto-oncogenes are opposite (dominant).
Knowledge Level 3, System: Lymphoid
Anonymous Contributor
Tay Sach's features Hi Yield [ID 829]
SACHS:
Spot in macula
Ashkenazic Jews
CNS degeneration
Hex A deficiency
Storage disease
_ Extra details with TAY:
Testing recommended
Autosomal recessive/ Amaurosis
Young death (<4>
Knowledge Level 2, System: Nervous
Robert O'Connor University College Dublin
Blots: function of Southern vs. Northern vs. Western Hi Yield [ID 269]
"SN0W DR0P":
_ Match up the 1st word letter with 2nd word letter:
Southern=DNA
Northern=RNA
Western=Protein
_ The 0's in snow drop are zeros, since there is no Eastern blot.
Knowledge Level 1, System: Other/Miscellaneous
Anonymous Contributor
Cell cycle stages Hi Yield [ID 129]
"Go Sally Go! Make Children!":
G1 phase (Growth phase 1)
S phase (DNA Synthesis)
G2 phase (Growth phase 2)
M phase (Mitosis)
C phase (Cytokinesis)
Knowledge Level 1, System: Other/Miscellaneous
Anonymous Contributor
Chromosome 15 diseases Hi Yield [ID 1287]
Chromosome 15 has its own MAP:
Marfan syndrome
Angelman syndrome
Prader-Willi syndrome
Knowledge Level 3, System: Other/Miscellaneous
Christopher Jordan UAG
Codons: nonsense mutation Hi Yield [ID 2061]
"Stop talking nonsense!":
Nonsense mutation causes premature stop.
Knowledge Level 1, System: Other/Miscellaneous
Robert O'Connor University College Dublin
Cri-du-chat syndrome: chromosomal deletion causing it is 5p(-) Hi Yield [ID 408]
What's another name for a cat that's five letters long and starts with a P? (Answer: pussy).
Why is the cat crying? Missing its P.
Knowledge Level 3, System: Other/Miscellaneous
Anonymous Contributor
DNA: Z vs. B form: which is inactive Hi Yield [ID 2250]
ZZZZ is sleeping (inactive).
B form is therefore active DNA.
Knowledge Level 2, System: Other/Miscellaneous
Robert O'Connor University College Dublin
Down syndrome features: complete Hi Yield [ID 865]
"My CHILD HAS PROBLEM!":
Congenital heart disease/ Cataracts
Hypotonia/ Hypothyroidism
Incure 5th finger/ Increased gap between 1st and 2nd toe
Leukemia risk x2/ Lung problem
Duodenal atresia/ Delayed development
Hirshsprung's disease/ Hearing loss
Alzheimer's disease/ Alantoaxial instability
Squint/ Short neck
Protruding tongue/ Palm crease
Round face/ Rolling eye (nystagmus)
Occiput flat/ Oblique eye fissure
Brushfield spot/ Brachycephaly
Low nasal bridge/ Language problem
Epicanthic fold/ Ear folded
Mental retardation/ Myoclonus
Knowledge Level 9, System: Other/Miscellaneous
Lau Yue Young Geoffrey Medical Student '03, Hong Kong University
Down syndrome pathology Hi Yield [ID 803]
DOWN:
Decreased alpha-fetoprotein and unconjugated estriol (maternal)
One extra chromosome twenty-one
Women of advanced age
Nondisjunction during maternal meiosis
Knowledge Level 4, System: Other/Miscellaneous
Rinku S. Uberoi UNIBE
Exon vs. intron function [ID 31]
Exons Expressed.
InTrons In Trash.
Knowledge Level 1, System: Other/Miscellaneous
Anonymous Contributor
Hardy-Weinberg equilibrium: causes for deviations from it [ID 147]
"Maggie May Does Not Smoke":
Mutations
Migration
Drift
Non-random mating
Selection
Knowledge Level 8, System: Other/Miscellaneous
Anonymous Contributor
Hurler syndrome features Hi Yield [ID 820]
HURLER'S:
Heptosplenomegaly
Ugly facies
Recessive (AR inheritance)
L-iduronidase deficiency (alpha)
Eyes clouded
Retarded
Short/ Stubby fingers
Knowledge Level 3, System: Other/Miscellaneous
Robert O'Connor University College Dublin
Imprinting diseases: Prader-Willi and Angelman Hi Yield [ID 699]
"Pray to an Angel":
Prader-Willi and Angelman are the 2 classic imprinting diseases.
_ Which disease results, depends on whether 15q deletion is maternal or paternal. Keep them straight by:
Paternal is Prader-Willi.
_ See diagram for cardinal symptom of each disease.
Knowledge Level 3, System: Other/Miscellaneous
Robert O'Connor University College Dublin
Marfan syndrome features Hi Yield [ID 642]
MARFAN'S:
Mitral valve prolapse
Aortic Aneurysm
Retinal detachment
Fibrillin
Arachnodactyly
Negative Nitroprusside test (differentiates from homocystinuria)
Subluxated lens
Knowledge Level 2, System: Other/Miscellaneous
Rinku Uberoi and Wabbas Mahmud UNIBE and Punjab Medical College Faisalabad, Pakistan
Nucleotides: class having the single ring Hi Yield [ID 32]
_ "Pyrimadines are CUT from purines"
_ Pyrimidines are:
Cytosine
Uracil
Thiamine
They are cut from purines so the pyrimadines must be smaller (one ring).
Knowledge Level 1, System: Other/Miscellaneous
Anonymous Contributor
Nucleotides: double vs. triple bonded basepairs Hi Yield [ID 2060]
"TU bonds" (two bonds):
T-A and U-A have Two bonds.
G-C therefore has the three bonds.
Knowledge Level 2, System: Other/Miscellaneous
Robert O'Connor University College Dublin
Nucleotides: purines Hi Yield [ID 2365]
"AGUA PURa":
Adenine and GUAnine are PURines.
_ "Agua pura" is spanish for "pure water".
Knowledge Level 1, System: Other/Miscellaneous
Patricia Sanchez INTEC University, Santo Domingo, Dominican Republic
Nucleotides: purines vs. pyrimidines [ID 1228]
"Guardian Angels are Pure, with two Wings":
G and A are Purines, with two Rings.
_ See diagram.
Knowledge Level 1, System: Other/Miscellaneous
V. Coleman University of Washington SOM, Seattle
Nucleotides: which are purines Hi Yield [ID 415]
"Pure Silver":
_ Chemical formula of Pure silver is Ag.
Therefore, Purines are Adenine and Guanine.
Knowledge Level 1, System: Other/Miscellaneous
Jason Mounts Medical College of Georgia
Pedigree symbols: gender and affected [ID 113]
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].
Knowledge Level 1, System: Other/Miscellaneous
Robert O'Connor University College Dublin
Pyrimidines nucleotides Hi Yield [ID 320]
"CUT the PY" (cut the pie):
Cytosine
Uracil
Thiamine
are the PYrimidines
Knowledge Level 1, System: Other/Miscellaneous
Ken Evans Saskatchewan Health, Acute and Emergency Services
