Russell - Silver syndrome

ABCDEF

Russell-Silver syndrome features:

Asymmetric limb (hemihypertrophy)
Bossing (frontal)
Clinodactyly / Cafe au lait spots
Dwarf (short stature)
Excretion (GU malformation)
Face (triangular face, micrognathia)

Down syndrome features: complete

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

Marfan syndrome : features

MARFAN'S:
Mitral valve prolapse
Aortic Aneurysm
Retinal detachment
Fibrillin
Arachnodactyly
Negative Nitroprusside test (differentiates from homocystinuria)
Subluxated lens

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]

APKD: genetics

 ADult Polycystic Kidney Disease is
Autosomal
Dominant
· Also, "Polycystic kidney" has 16 letters and is due to a defect on chromosome 16.

Bartter syndrome: inheritance

BARtter syndrome is autosomal recessive (AR).

Down syndrome pathology

 DOWN:
Decreased alpha-fetoprotein and unconjugated estriol (maternal)
One extra chromosome twenty-one
Women of advanced age
Nondisjunction during maternal meiosis

Nucleotides: which are purines

 "Pure Silver":
· Chemical formula of Pure silver is Ag.
Therefore, Purines are Adenine and Guanine.

Exon vs. intron function

 Exons Expressed.
InTrons In Trash.

Hurler syndrome features

 HURLER'S:
Heptosplenomegaly
Ugly facies
Recessive (AR inheritance)
L-iduronidase deficiency (alpha)
Eyes clouded
Retarded
Short/ Stubby fingers

Achrondroplasia dwarfism: inheritance pattern

Achondroplasia Dwarfism is Autosomal Dominant.

DiGeorge/ Velocardiofacial syndrome: features

 CATCH 22:
Cardiac abnormalities
Abnormal facies
Thymic aplasia
Cleft palate
Hypocalcemia
22q11 deletion

Imprinting diseases: Prader-Willi and Angelman

"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.

Blots: function of Southern vs. Northern vs. Western

 "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

Chromosome 15 diseases

Chromosome 15 has its own MAP:
Marfan syndrome
Angelman syndrome
Prader-Willi syndrome

Hurler's syndrome: symptoms

BLUFF:
Blind (corneal opacity)
Little (dwarfish)
Ugly (coarse facial features)
Fool (mental retardation
Failures (failure to thrive and hear failure secondary to coronary artery disease)

Down syndrome features: complete

 "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

Nucleotides: purines vs. pyrimidines

"Guardian Angels are Pure, with two Wings":
G and A are Purines, with two Rings.

Nucleotides: double vs. triple bonded basepairs

 "TU bonds" (two bonds):
T-A and U-A have Two bonds.
G-C therefore has the three bonds.

Tay Sach's features

 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 yrs)