Mnemonic: FABRY CX 1. Febrile episodes, Foam cells 2. Angiokeratomas, Alpha galactosidase A deficiency 3. Burning pains in hands and feet 4. Renal failure 5. Youth death 6. Cardiovascular disease, Ceramide trihexoside accumulation 7. X-linked recessive inheritance Further reading:
Tag: Genetics
PGMEE, MRCS, USMLE, MBBS, MD/MS 
Patau Syndrome : Mnemonic
Chromosomal abnormality Count the letters in “Patau Syndrome”. There are 13 letters. Patau syndrome is Trisomy 13. Clinical features Mnemonic: PATAU
PGMEE, MRCS, USMLE, MBBS, MD/MS 
Osteogenesis Imperfecta : Mnemonic
Synonym: Brittle Bone Disease Incidence: 1 in 20,000 Gene defect: Col1A1 (17q) and Col1A2 (7q) Mnemonic: Remember “one” for “bone”. Collagen one is the main composition of bone. OI is a disorder of bone. Hence, the defect is is in Col1. Features Mnemonic: BLOOD Sillence Type Inheritance Features Mnemonic Collagen…