Genetics- Modes of Inheritance and mnemonics for AD, AR

and X-linked dzs

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1. Autosomal multiple generations affected, male and 5. Mnemonic for Autosomal Job's Family MOCHA STAND
dominant: female dominant diseases
Job's syndrome (Hyper IgE)
Generations Pleiotropy- multiple apparently
affected? unrelated effects Familial adenomatous polyposis
Males/females? variably expressive- different between
individuals MEN syndromes/Marfans
associated terms Osteogenesis imperfecta/Osler-
50% weber-Rendu
Chance a child will Cholesterolemia/Crigler najar
be affected with Huntington/Hippel
one heterozygous lindau/Hyperbilirubinemia
parent (crigler najar)
Autosomal
2. Autosomal usually just one generation
DPKD/Achondroplasia
recessive
childhood age presentation
Spherocytosis
generations
Tuberous Schlerosis
affected? 1/4 no carrier, 1/2 carrier, 1/4 affected
Adenomatous polyposis (again)
Neurofibromatosis/Noonan
Presentation age?
Dystonic myotonia
Chance of being 6. X Linked Dominant FRAX
affected with 2 Mnemonic
carrier parents? Fragile X (beginning and end of
mnemonic)
3. Autosomal ABCDEFH SPeW
Rett Syndrome
recessive
Alport Syndrome
mnemonic Albinism/ Alpha-1 antitripsin deficiency
Beta thalassemia 7. Xlinked Dominant Mother- 50% of daughters and
CF/CGD/CAH sons
Dubin Johnson What if mother Father- to all daughters but no
Enzyme deficiency (Sphingolipidases- transmits? sons
not fabray's, glycogen storage dz's) What if father transmits?
Friedrichs ataxia, Fanconi Anemia
8. X-linked recessive Butch's Father Had a beautiful
Hemochromatosis
mnemonic GOLD Watch

Sickle cell
Brutons
Phenylketonuria
Wilsons
Fabry's
4. Mitochondrial Only transmitted through the mother.
inheritance Hunter's/ Hemophilia A and B
Heteroplasmy- presence of both normal
Who transmits? and mutated mtDNA. Results in variable G6PD Deficiency
expression in mitochondrially inherited Ocular ablinism
associated terms? disease. Lesch nyhan
Duchennes dystrophy

Wiskott aldrich
9. X-linked recessive Sons are affected, heterozygous mothers transmit

Who is affected, who transmits? If mother is heterozygous, there is a 50% chance of transmission.

Chance of getting affected with heterozygous carrier?