| Question |
Answer |
| Cell-signaling defect that results in dwarfism, short limbs, with normal head an trunk. Associated with ___. Gene: ___ |
Achondroplasia. Autosomal dominant; FGF3, associated with paternal age |
| Bilateral/unilateral enlargment of kidneys due to multiple large cysts. Presents with ___,___, ___, ___. mutation in ____ on chromosome ____. Associated with ____, ____, ____. Infantile form is ad/recessive? |
APKD. Autosomal dominant; APKD1 (16). Sx: flank pain, hypertension, hematuria, renal failure. Associated with polycystic liver disease, berry aneurysms, mitral valve prolapse. infantile = recessive. |
| Colon becomes covered with adenomatous polyps after puberty. Type of mutation? Gene ___, chromosome _____. |
FAP; autosomal dominant. APC gene, chromosome 5 due to a deletion. |
| Elevated LDL. Associated with ___, ____, ____. Type of defect? |
Familial hypercholesterolemia(hyperlipidemia type IIA); Autosomal dominant. Defective LDL receptor. Associated with atherosclerotic disease early in life, tendon xanthomas (achilles), MI |
| Telengiectasia, recurrent epistaxis, skin discolorations, AVMs |
Osler-Weber-Rendu (Hereditary hemorrhagic telangiectasia. Autosomal dominant; |
| autosomal dominant blood disorder with hemolytic anemia and abnormal RBC. Defect is due to ____. It causes ____ erythrocytes. Treatment is ____. |
Hereditary Spherocytosis. Spectrin/ankrin defect (structural). Causes spheroid erythrocytes. Lab: low hemoglobin with increased MCHC. Treatment is splenectomay |
| Huntington disease is ____ (AD/AR etc). Caused by what type of mutation. Located on what chromosome? What NTs are abnormal? |
Autosomal dominant (CAG) trinucleotide repeat. Located on chromosome 4. |
| Marfan's gene ____. Autosomal dominant/recessive etc. |
Fibrillin. Autosomal dominant |
| MEN disorders are associated with what gene? AD/AR, etc? |
ret. AD. I: Pituitary, parathyroid, pancreatic endocrine (Zollinger ELlison, insulinoma, VIPoma) (kidney stones, ulcers). II: parathyroid, pheochromocytoma, medullary thyroid cancers, IIB: thyroid, pheochromoctyoma, oral/intestinal ulcers, habitus |
| Von Recklinghousen, Osler-Weber-Rendu, Von-Hippel Lindau |
Von recklinhousen: NFI, Osler-Weber-Rendu: Hereditary hemorrhagic telangiectasia, VHL: renal cell carcinoma, hemangioblastoma, pheochromocytoma. |
| mutation of a gene on chromosome 17. What are the symptoms? |
Autosomal dominant. cafe-au-lait spots, neural tumors, Lisch nodules (pigmented iris harmartomas. Skeletal disorders including optic pathyway gliomas, pheochromocytoma and tumor susceptibility. |
| NF2: symptoms, inheritance, gene and chromosome |
Bilateral acoustic neuroma, juvenile cataracts. NF2 (22). |
| Tuberous sclerosis |
Autosomal dominant. Facial lesions (adenoma sebaceum), ash-leaf spots, cortical and retinal hamartomas, seizures, mental retardation, renal cysts, renal angiomyolipomas, cardiac rhabdomyosms, increased incidence of astrocytoms. |
| Hemangioblastoma, renal cell carcinoma, |
Von Hippel Lindau. chromosome 3 (constitutive expression of HIF and activation of angiogenic growth factors. |
mr. charles11
