Genetics Flashcards
What is the typical incidence of rare things?
1-3%
What is the typical incidence with 1 risk factor?
10%
What is the typical incidence with 2 risk factors?
50%
What is the typical incidence with 3 risk factors?
90%
What does Autosomal Dominant usually indicate?
Structural problems, 50% chance of passing it on
What does Autosomal Recessive mean?
Enzyme deficiency, 1/4 get it, 2/3 carry it
What are the X linked recessive diseases?
- Hunters
- Lesch Nyhann
- G6PD
- CGD
- Wiscott-Aldrididge
- Hemophilia A and B
- Duschenne Muscular Dystrophy
- Fabry’s
- Adrenoleukodystrophy
Where did X liked recessive diseases came from?
From maternal uncle or grandpa
What are the X linked dominant diseases?
Na-resistant Rickets (kidney leaks phosphorus) waddling gait
Pseudohypoparathyroidism: sausage digits, osteodystrophy
Where does the X linked dominant diseases come from?
Dad-> Daughter
What are the Mitochondrial diseases?
Leber’s: atrophy of optic nerve
Leigh’s: subacute necrotizing encephalomyelopathy
Where did the mitochondrial diseases come from?
Mom-> all kids
What do we stop CPR after 20-30 mins?
The brain has irreversible cell injury
What do we only 6hr to use t-PA?
The body has irreversible cell injury
What is Turner’s?
(X,O), web neck, cystic hygroma, shield chest, coarctation of the aorta, rib notching
What is Klinefelter’s?
(47, XXY), tall, gynecomastia, infertility, decreased testosterone
What is XXX syndrome?
(47, XXX), normal female with two Barr bodies
What is XXY syndrome?
(47, XXY), tall aggressive male
What is Trisomy 13?
Patau’s, polydactily, high arched palate, pee problem, holoprosencephaly
What is Trisomy 18?
Edward’s rocker bottom feet, clenched fist.
What is Trisomy 21?
Down’s, simian crease, wide 1st and 2nd toes, macroglossia, mongolian slanted eyes, brushfield spots, retardation, Defect in the heart heart cushioning, high risk of alzheimer’s, double bubble sign on X-Ray (duodenal atresia).
What disease has dinucleotide repeat?
HNPCC
What disease has trinucleotide disease?
Huntington’s, Fragile X, Myotonic Dystrophy, Frederick Ataxia
What is Angelman’s?
Happy puppet syndrome, ataxia, Mom’s fault
What is Prader Willi?
Hyperphagia, hypogonadism, almond shaped eyes
What is Kallman’s?
Anosmia, small testes
What is Anaplasia?
Regress to infantile state
What is atrophy?
Decreased organ or tissue size
What is desmoplasia?
Cell wraps itself w/ dense fibrous tissue
What is dysplasia “carcinoma in situ”?
Lose contact inhibition (cells crawl on top of each other)
What is Hyperplasia?
Increased cell number.
What is Hypertophy?
Increased cell size
What is Metaplasia?
Change from one adult cell type to another
What is Neoplasia?
New growth
What is benign?
Well circumscribed, freely movable, maintain capsule, obeys physiology, hurts by compression, slow growing
What is malignant?
Not well circumscribed, fixed, not no capsule, doesn’t obey physiology, hurts by metastasis, rapidly growing (outgrows blood supply), hunts for blood, secretes angiogenin and endostatin to inhibit blood supply of other tumors). `
What are the fastest killing cancers?
Pancreatic and esphageal
What does Adeno- tell you?
Glandular
What does Leiomyo- tell you?
Smooth muscle
What does Rhabdomyo- tell you?
Skeletal muscle
What does Hemangio- tell you?
Blood vessel
What does Lipo- tell you?
Fat
What does Osteo- tell you?
Bone
What does Fibro- tell you?
Fibrous tissue
What does -oma tell you?
Tumor
What does carcinoma tell you?
Cancer
What does sarcoma tell you?
Connective tissue cancer
What is Hamartoma?
Abnormal growth of normal tissue
What is Choristoma?
Normal tissue in the wrong place
What is the most common anterior mediastinum tumor?
Thymoma
What is the most common middle mediastinum tumor?
Pericardial
