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65 Cards in this Set
- Front
- Back
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What is the genetic inheritance and symptoms of achondroplasia?
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Autosomal dominant.
Cell-signaling defect of fibroblast growth factor receptor 3. Results in dwarfism, short limbs, larger head, but trunk size is normal. Associated with advanced paternal age. |
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What is the genetic inheritance and symptoms of ADPKD?
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Autosomal dominant.
Always bilateral, massive enlargement of kidneys d/t multiple cysts. Patients have flank pain, hematuria, hypertension, progressive renal failure. Mutation in PDK1 (Chrom 16). Associated with polycystic liver disease, berry aneurysm, mitral valve prolapse. |
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What is genetic inheritance and symptoms of familial adenamatous polyposis?
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Colon becomes covered with adenomatous polyps after puberty. Progresses to colon cancer unless colon is resected. Mutation in APC gene on chrome 5
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What is the genetic inheritance and symptoms of familial hypercholesterolemia (Hyperlipidemia type IIA)?
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Autosomal dominant.
Elevated LDL d/t defective of absent LDL receptor. Severed atherosclerotic disease early in life and tenon xanthomas MI may develop before age of 20 |
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What is the genetic inheritance and symptoms of hereditary hemorrhagic telagiectasia (Osler-Weber-Rendu syndrome)?
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Autosomal Dominant.
Inherited disorder of blood vessels. See telangiectasias, recurrent epistaxis, skin discolorations, arteriovenous malformations (AVMs) |
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What is the genetic inheritance and symptoms of hereditary spherocytosis?
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Autosomal dominant
Spheroid erythrocytes due to spectrin or ankyrin defect, causes hemolytic anemia and increased MCHC Splenectomy is curative |
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What is the genetic inheritance of Huntington disease?
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Autosomal dominant
Depression, progressive dementia, choreiform movements, caudate atrophy and decreased levels of GANA and ACh in the brain. Between ages 20-50. Gene is on chromosome 4, trinucleotide repeat of CAG "Hunting 4 food" |
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What is the genetic inheritance and symptoms of Marfans syndrome?
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Autosomal dominant
Fibrillin-1 gene mutation causes connective tissue disorder affecting skeleton, heart, and eyes. People are tall with long extremities, pectus excavatum, hypermobil joints and long, tapering fingers and toes. Can also have cystic medial necrosis of aorta causing aortic incompetence and dissecting aortic aneurysms; floppy mitral valve and subluxation of lenses |
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What is the genetic inheritance and symptoms of multiple endocrine neoplasia (MEN)?
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Autosomal Dominant
Famiiial tumors of endocrine glands, including pancreas, parathyroid, pituitary, thyroid, and adrenal medulla. MEN 2A and 2B are associated with RET gene |
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What is the genetic inheritance and symptoms of Neurofibromatosis Type 1 (Von Recklinghausen's disease)?
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Autosomal dominant
Cafe-au-lait spots, neural tumors, Lisch nodules (pigmented iris hamartomas), skeletal disorders such as scoliosis and optic pathway gliomas. Long arm of chromosome 17 |
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What is the genetic inheritance and symptoms of Neurofibromatosis Type 2?
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Autosomal dominant
Bilateral acoustic schwannomas, juvenile cataracts. NF2 gene on chromosome 22 |
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What is the genetic inheritance and symptoms of Tuberous sclerosis?
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Autosomal dominant
Facial lesions, hypopigmented ash leaf spots on skin, cortical and retinal hamartomas, seizures, mental retardation, renal cysts, and renal angiomyolipomas, cardiac rhabdomyomas, increased incidence of astrocytomas. Incomplete penetrance with variable penetration |
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What is the genetic inheritance and symptoms of von Hippel-Lindau disease?
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Autosomal dominant
Hemangioblastomas or retina/cerebellum/medulla, multiple bilateral renal cell carcinoma and other tumors. Deletion of VHL gene (tumor suppressor) on chromosome 3. Results in constitutive expression of HIF (a transcription factor) and activation of angiogenic growth factors |
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What is the genetic inheritance of albinism?
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Autosomal recessive
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What is the genetic inheritance of infantile polycystic kidney disease?
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Autosomal recessive
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What is the genetic inheritance of cystic fibrosis?
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Autosomal recessive
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What is the genetic inheritance of glycogen storage disease?
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Autosomal recessive
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What is the genetic inheritance of hemochromatosis?
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Autosomal recessive
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What is the genetic inheritance of mucopolysaccharidoses?
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Autosomal recessive
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What is the genetic inheritance of phenylketonuria?
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Autosomal recessive
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What is the genetic inheritance of sickle cell anemia?
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Autosomal recessive
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What is the genetic inheritance of sphingolipidoses?
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Autosomal recessive
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What is the genetic inheritance of thalassemias?
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Autosomal recessive
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What gene is mutated in cystic fibrosis? On what chromosome?
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CFTR on chromosome 7
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What does a Cl channel encoded by CFTR normally do?
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Actively secretes Cl in lungs and Gi tract and actively reabsorbs Cl from sweat
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What does a defective Cl lead to?
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Secretion of abnormally thick mucus that plugs lungs, pancreas, and liver leading to recurrent pulmonary infections, chronic bronchitis, bronchiectasis, pancreatic insufficiency, nasal polyps, and meconium ileus in newborns
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How does cystic fibrosis cause infertility in males?
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Bilateral absence of vas deferens
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What is diagnostic of Cystic fibrosis?
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Increased concentration of Cl ions in sweat test
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What is the treatment for cystic fibrosis?
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N-acetylcystine to loosen mucous plugs (cleaves disulfide bonds within mucous glycoproteins)
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Be Wise Fool's GOLD Heeds Silly HOpe is a mnemonic for what? What do the capital letters stand for?
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X-linked recessive
B = Brutons agammaglobulinemia W= Wiskott-Aldrich syndrome F= Fabry's disease G= G6PD deficiency O= Ocular albinism L= Lesch Nyhan syndrome D = Duchenne and Beckers muscular dystrophy H and S = Hunter's syndrome H= Hemophilia A and B O= Orthithine transcarbamoylse deficiency |
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What is the genetic inheritance of Brutons agammaglobinemia?
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X- linked recessive
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What is the genetic inheritance of Wiskott-Aldrich syndrome?
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X- linked recessive
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What is the genetic inheritance of Fabry's disease?
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X- linked recessive
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What is the genetic inheritance of G6PD?
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X- linked recessive
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What is the genetic inheritance of Ocular albinism?
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X- linked recessive
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What is the genetic inheritance of Lesch Nyhan syndrome?
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X- linked recessive
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What is the genetic inheritance of Duchenne muscular dystrophy?
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X-linked recessive
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What is the genetic inheritance of Hunters Syndrome?
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X-linked recessive
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What is the genetic inheritance of Hemophilia A and B?
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X-linked recessive
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What is the genetic inheritance of ornithine transcarbamoylase deficiency?
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X-linked recessive
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A frameshift mutation leading to the deletion of the dystrophin gene is the cause of what disease?
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Duchennes muscular dystrophy
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What time is the onset of Duchenne's and what are the classic symptoms?
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Onset before 5 years of age
Weakness starts in pelvic girdle muscles and progresses superiorly Pseudohypertrophy of calf muscles d/t fibrofatty replacement of muscle Cardiac myopathy Gowers Maneuver: needing to use upper extremities to asset in standing up |
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How do you diagnose muscular dystrophy?
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Increased CPK and muscle biopsy
Dystrophin normally helps anchor muscle fibers, primarily in skeletal and cardiac muscle |
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What is Fragile X syndrome?
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X-linked defect affecting methylation and expression of the FMR1 gene
Second most common cause of genetic mental retardation after Downs syndrome Findings: macroorchidism (enlarged testes), long face with a large jaw, large everted ears, autism, mitral valve prolapse Trinucleotide repeat disorder Fragile X = eXtra large testes, jaws, ears |
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What disease are caused by trinucleotide repeat expansion diseases?
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Huntington disease
Myotonic dystrophy Friedreich's ataxia Fragile X syndrome "TRY (tri) HUNTING for MY FRIED EGGS (X)" |
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What type of diseases are characterized by genetic anticipation where the disease severity increases and age of onset decreases in each generation?
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Trinucleotide repeat expansion disease
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What is the middle letter of the trinculeotide repeat for the four disease that are caused by trinucleotide repeat expansions?
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X-Girlfriend's First Aid Helped Ace My Test
Fragile X = G (CGG) Friedrich's Ataxia = A (GAA) Huntington= A (CAG) Myotonic dystrophy = T (CTG) |
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What is the name for trisomy 21?
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Down Syndrome
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What is the name for trisomy 18?
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Edward's Syndrome
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What iso the name of Trisomy 13?
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Patau's syndrome
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What is a mnemonic to remember the types of diseases caused by autosomal trisomies?
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Drinking age is 21 = Down Syndrome is chromosome 21
Election age is 18 = Edwards Syndrome is chrom 18 Puberty age is 13= Patau's syndrome is chrom 13 |
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What are the results you would see in a pregnancy quad screen for down syndrome?
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Alpha-fetoprotein = decreased
B-hCG = increased Estriol = decreased Inhibin A = increased |
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What are the findings in down syndrome?
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Mental retardation
Flat facies Prominent epicanthal folds Simian crease Gap between first 2 toes Duodenal atresia (double bubble) Congenital heart disease--ostium primum type ASD Increased risk of ALL Increased risk of Alzheimer disease |
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What are the results of quad screening in Edwards Syndrome (trisomy 18)?
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Alpha-fetoprotein = decreased
B-hCG= decreased Estriol = decreased Inhibin A = normal |
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What are the findings in Edwards syndrome (trisomy 18)?
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Severe mental retardation
Rocker bottom feet micrognathia (small jaw) Low set ears Clenched hands Prominent occiput Congenital heart disease Death usually occurs within 1 year of birth |
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What are the results of first trimester screening in Patau's syndrome (trisomy 13)?
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B-HCG= decreased
PAPPA-A = decreased Nuchal translucency = Increased |
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What are the findings in Patau's syndrome (Trisomy 13)?
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Severe mental retardation
Roccker bottom feet Microphthalmia Microcephaly Cleft lip/palate Hosoprosencephaly Polydactylyl Congenital heart disease Death usually occurs within one year of birth |
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What is the genetic problem in Cri-du-Chat?
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Congenital micro deletion of short arm of chromosome 5
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What are the findings in Cri-du-Chat syndrome?
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Microcephaly
Moderate to severe mental retardation high pitched crying/mewing Epicanthal folds Cardiac abnormalities (VSD) Cri-du-chat = cry of the cat |
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What is the genetic problem in Williams Syndrome?
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Congenital micro deletion of long arm of chromosome 7 (deleted region includes elastin gene)
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What are the findings in Williams Syndrome?
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Distinctive 'elfin' facies
Intellectual disability Hypercalcemia d/t increased sensitivity to Vit D Well-developed verbal skills Extreme friendliness with strangers Cardiovascular problems |
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What are the 22q11 deletion syndromes?
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Di-George Syndrome
Velocardiofacial syndrome Microdeletion at chromosome 22q11 Due to aberrant development of 3rd and 4th branchial pouches |
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What are the symptoms/findings in 22q11 deletion syndromes?
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CATCH-22
C = Cleft palate A= Abnormal facies T = Thymic aplasia C= Cardiac defects H= Hypocalcemia secondary to parathyroid aplasia |
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What are the findings in DiGeorge syndrome?
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Thymic, parathyroid, and cardiac defects
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What are the findings in Velocardiofacial syndrome?
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Palate, facial, and cardiac defects
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