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Genetics Clues
clues yo
90
Medical
Post-Graduate
12/10/2011

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Cards

Term
WHAT IS THE TYPICAL INCIDENCE OF RARE THINGS?
Definition
1-3%
Term
WHAT IS THE TYPICAL INCIDENCE WITH 1 RISK FACTORS?
Definition
10%
Term
WHAT IS THE TYPICAL INCIDENCE WITH 2 RISK FACTORS?
Definition
50%
Term
WHAT IS THE TYPICAL INCIDENCE WITH 3 RISK FACTORS?
Definition
90%
Term
WHAT DOES AUTO DOM USUALLY INDICATE?
Definition
STRUCTURAL PROTEIN, 50% CHANCE OF PASSING IT ON
Term
WHAT DOES AUTO RESS USUALLY INDICATE?
Definition
ENZYME DEFICIENCY, 1/4 GET IT AND 2/3 WILL CARRY IT
Term
WHAT ARE THE X-LINKED RESS DEF?
Definition
"LESCH-NYHAN went HUNTING FOR PIRATES and GOLD COOKIES" -
LESCHNYHAN, HUNTERS, FABRY'S, PDH DEFICIENCY, G6PD DEFICIENCY, CHRONIC GRANULOMATOUS DZ
Term
LESCHNYHAN?
Definition
HGPRT DEF, SELF MUTILATION, GOUT, N' NEUROPATHY, CAN'T FEEL FINGERS THAT'S WHY THEY CHEW ON IT (XLR)
Term
HUNTERS?
Definition
IDURONIDASE DEF, NO CORNEAL CLOUDING (XLR)
Term
FABRY'S?
Definition
ALPHA GALATOCIDASE DEF, CORNEAL CLOUDING, ATTACKS BABY'S KIDNEY (XLR)
Term
PDH DEFICIENCY
Definition
XLR
Term
G6PD DEFICIENCY
Definition
INFECTIONS, HEMOLYTIC ANEMIA (HMP SHUNT FAIL, AND MANY OTHERS ACTUALLY) - XLR
Term
CHRONIC GRANULOMATOUS DZ?
Definition
NADPH OXIDASE DEFICIENCY, NEUTROPHILS CAN PHAGACYTOSE BUT CAN'T KILL IT B/C NO RESP BURST POSSIBLE
Term
WHERE DID X-LINKED RESS DISEASE COME FROM?
Definition
FROM MATERNAL UNCLE OR GRANDPA
Term
WHERE DID X-LINKED DOM DISEASE COME FROM?
Definition
DAD -- DAUGHTER
Term
WHAT ARE THE MITOCHONDRIAL DISEASES?
Definition
LEBERS (ATROPHY OF OPTIC NERVE), AND LEIGH'S (SUBACUTE NECROTIZING ENCEPHALOMYELOPATHY -- ALL MITO DISEASE LOOK FOR RAGGED RED FIBERS
Term
WHERE DO MITO DISEASES COME FROM?
Definition
MOM TO ALL* KIDS
Term
WHY DO WE STOP CPR AFTER 20-30 MINS?
Definition
BRAIN HAS IRREVERSIBLE CELL INJURY
Term
WHY DO WE ONLY HAVE 6HRS TO USE t-PA?
Definition
THE BODY HAS IRREVERSIBLE CELL INJURY
Term
WHAT IS TURNERS?
Definition
(XO), WEB NECK, CYSTIC HYGROMA, SHIELD CHEST, COARCHTATION OF AORTA*, RIB NOTCHING, OVARIAN STREAKS (CAN STILL BE FERTILE BUT HAS TO BE IN-VITRO)
Term
WHAT IS KLINEFELTER'S?
Definition
(47,XXY); TALL, GYNECOMASTIA, INFERTILITY, LOW TESTOSTERONE
Term
WHAT IS XXX SYNDROME?
Definition
(47, XXX) NORMAL FEMALE WITH TWO BARR BODIES
Term
WHAT IS XYY?
Definition
(47, XXY) TALL AGGRESSIVE MALE
Term
WHAT IS TRISOMY 13?
Definition
PATAU'S, POLYDACTYLY, HIGH ARCH PALATE, PEE PROBLEM, HOLOPROSENCEPHALY
Term
WHAT IS TRISOMY 18?
Definition
EDWARDS, ROCKER BOTTOM FEET, TRI-PHALANGEAL THUMB THAT COVERS ALL HIS KNUCKLES WHEN CLENCHED FIST
Term
WHAT IS TRISOMY 21?
Definition
DOWN'S, SIMIAN CREASE, WIDE 1ST/2ND TOES, MACROGLOSSIA, MONGOLIAN SLANT OF EYES, BRUSHFIELD SPOT, RETARDATION, INCREASED RISK OF AML (M3, AUER ROD BODIES, PERIOXIDASE STAIN, 15;17). MORE OF A RISK OF ALL IN THE WHOLE POPULATION
Term
WHAT IS DINUCLEOTIDE REPEAT?
Definition
HNPCC, MISMATCH REPAIR OF DNA - WITH MHS1 OR APC GENE
Term
WHAT IS TRINUCLEOTIDE REPEAT?
Definition
HUNTINGTONS (ANTICIPATION, CAUDATE), FRAGILE X (BIG BALLS), MYOTONIC DYSTROPHY (HOLDS DOOR HANDLE OR HANDSHAKE N' CAN'T LET GO), FRIEDREICH'S ATAXIA
Term
WHAT IS ANGELMAN'S?
Definition
HAPPY PUPPET SYNDROME, ATAXIA, MOM'S DELETED, GENOMIC IMPRINTING/UNPARENTAL DISOMY
Term
WHAT IS PRADER-WILLI?
Definition
HYPERPHAGIA, HYPOGONADISM, ALMOND SHAPED EYES, DAD DELETED, GENOMIC IMPRINTING/UNPARENTAL DISOMY
Term
WHAT IS KALLMAN'S?
Definition
ANOSMIA, SMALL TESTES
Term
WHAT IS ANAPLASIA?
Definition
REGRESS TO INFANTILE STATE
Term
WHAT IS ATROPHY?
Definition
DECREASED ORGAN OR TISSUE SIZE
Term
WHAT IS DESMOPLASIA?
Definition
CELL WRAPS ITSELF W/DENSE FIBROUS TISSUE
Term
WHAT IS DYSPLASIA, 'CARCINOMA IN SITU'?
Definition
LOSS OF CONTACT INHIBITION, CELLS ON TOP OF EACH OTHER
Term
WHAT IS HYPERPLASIA?
Definition
INCREASED CELL NUMBER
Term
WHAT IS HYPERTROPHY?
Definition
INCREASED CELL SIZE
Term
WHAT IS METAPLASIA?
Definition
CHANGE FROM ONE ADULT CELL TYPE TO ANOTHER
Term
WHAT IS NEOPLASM?
Definition
NEW GROWTH
Term
WHAT IS BENIGN?
Definition
WELL CIRCUMSCRIBED, FREELY MOVABLE, MAINTAINS CAPSULE, OBEYS PHYSIO, HURTS ON COMPRSSION, SLOW GROWING
Term
WHAT IS MALIGNANT?
Definition
NOT WELL CIRUMSCRIBED, FIXED, NO CAPSULE, DOESN'T OBEY PHYSIO, HURTS BY METASTASIS, RAPIDLY GROWING (OUTGROWS BLOOD SUPPLY - HUNTS FOR BLOOD - SECRETES ANGIOGENIN AND ENDOSTATIN TO INHIBIT BLOOD SUPPLY OF OTHER TUMORS
Term
WHAT ARE THE FASTEST KILLING CANCERS?
Definition
PANCREATIC CANCER, ESOPHAGEAL CANCER
Term
WHAT DOES ADENO- TELL YOU?
Definition
GLANDULAR
Term
WHAT DOES LEIOMYO - TELL YOU?
Definition
SMOOTH MUSCLE
Term
WHAT DOES RHABDOMYO- TELL YOU?
Definition
SKELETAL MUSCLE
Term
WHAT DOES HEMANGIO- TELL YOU?
Definition
BLOOD VESSELS
Term
WHAT DOES LIPO- TELL YOU?
Definition
FAT
Term
WHAT DOES OSTEO- TELL YOU?
Definition
BONE
Term
WHAT DOES FIBRO- TELL YOU?
Definition
FIBROUS TISSUE
Term
WHAT DOES -OMA TELL YOU?
Definition
TUMOR
Term
WHAT DOES -SARCOMA TELL YOU?
Definition
CONNECTIVE TISSUE CANCER
Term
WHAT DOES -CARCINOMA TELL YOU?
Definition
CANCER
Term
WHAT IS A HAMARTOMA?
Definition
ABNORMAL GROWTH OF NORMAL TISSUE
Term
WHAT IS CHORISTOMA?
Definition
NORMAL TISSUE IN THE WRONG PLACE
Term
WHAT IS THE MOST COMMON ANTERIOR MEDIASTINUM TUMOR?
Definition
THYMOMA
Term
WHAT IS THE MOST COMMON MIDDLE MEDIASTINUM TUMOR?
Definition
PERICARDIAL
Term
WHAT IS THE MOST COMMON POSTERIOR MEDIASTINUM TUMOR?
Definition
NEURO TUMORS
Term
WHAT ORGANS HAVE THE MOST COMMON OCCURRENCE OF METASTASIS?
Definition
"bbllap" - BRAIN(GRAYWHITE JNX), BONE(BONE MARROW), LUNG, LIVER(PORTAL VEIN, HEPATIC ARTERY), ADRENAL GLAND(ADRENAL ARTERIES), PERICARDIUM (CORONARY ARTERIES)
Term
WHAT CANCERS HAVE PSAMMOMA BODIES?
Definition
PAPILLARY (THYROID), SEROUS (OVARY), ADNEOCARCINOMA (OVARY), MENINGIONMA, MESOTHELIOMA
Term
WHAT CANCER HAS CA-125?
Definition
OVARIAN
Term
WHAT CANCER HAS CA19?
Definition
PANCREAS
Term
WHAT CANCER HAS S100?
Definition
MELANOMA
Term
WHAT CANCER HAS BRCA?
Definition
BREAST, HER, ERB
Term
WHAT CANCER HAS PSA?
Definition
PROSTATE
Term
WHAT CANCER HAS CEA?
Definition
COLON, PANCREATIC
Term
WHAT CANCER HAS AFP?
Definition
LIVER, YOLK SAC
Term
WHAT CANCER HAS RB?
Definition
EWING'S SARCOMA, RETINOBLASTOMA
Term
WHAT CANER HAS RET?
Definition
MEDULLARY THYROID CANCER
Term
WHAT CANCER HAS RAS?
Definition
COLON
Term
WHAT CANCER HAS BCL-2?
Definition
FOLLICULAR LYMPHOMA (14;18)
Term
WHAT CANCER HAS C-MYC?
Definition
BURKITT'S LYMPHOMA (8;14)
Term
WHAT CANCER HAS L-MYC?
Definition
SMALL CELL LUNG CA
Term
WHAT CANCER HAS N-MYC?
Definition
NEUROBLASTOMA - PSEUDOROSETTES
Term
WHAT CANCER HAS BOMBESIN?
Definition
NEUROBLASTOMA
Term
WHAT CANCER HAS B-HCG?
Definition
CHORIOCARCINOMA
Term
WHAT CANCER HAS 5-HT?
Definition
CARCINOID SYNDROME
Term
WHAT CANCER HAS 9,22?
Definition
PHILADELPHIA CH, CML, BCR-ABL
Term
WHAT CANCER HAS 14,18?
Definition
FOLLICULAR LYMPHOMA (BCL2)
Term
WHAT CANCER HAS 8,14?
Definition
BURKITT'S LYMPHOMA (C-MYC)
Term
WHAT CANCER HAS 15,17?
Definition
AML, M3 SUBTYPE (MOST COMMON)
Term
WHAT CANCER HAS 11,22?
Definition
EWING'S SARCOMA
Term
WHAT HAS HLA A3, A6?
Definition
HEMOCHROMATOSIS
Term
WHAT HAS HLA B5?
Definition
BEHCET'S
Term
WHAT HAS HLA B13?
Definition
PSORASIS ('HALF OF B27)
Term
WHAT HAS HLA B27
Definition
PSORIASIS, ANKYLOSING SPONDYLITIS (ucolitis), REITERS
Term
WHAT HAS HLA DR2?
Definition
GOOD PASTURES, MS
Term
WHAT IS THE MHC CLASS TYPE OF HLA A, B, OR C?
Definition
MHC 1, EVERYTHING ELSE MHC 2
Term
WHAT HAS HLA DR3?
Definition
CELIAC SPRUE
Term
WHAT HAS HLA DR4?
Definition
PEMPHIGUS VULGARIS (DESMOSOMES ANTIBODY)
Term
WHAT HAS HLA DR5?
Definition
PERNICOUS ANEMIA
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