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62 Cards in this Set
- Front
- Back
What type of inheritance is Achondroplasia?
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(Dwarfism): Autosomal Dominant (caused by de novo mutations in germline mosaicism or advanced paternal age)
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What is mutated gene in Achondroplasia
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FGFR3 gene mutation: Transmembrane Tyrosine Kinase Receptor
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What has the phenotype Prenatal onset, Rhizomelic short stature, megalenchephaly, and Spinal cord compression?
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Phenotype of Achondroplasia (dwarfism)
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What 2 genes are affected in hereditary Breast and Ovarian Cancer?
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BRCA 1 and 2
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What is the inheritance pattern for the BRCA 1 and 2 genes?
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Autosomal dominant with incomplete penetrance. (Tumor suppression Gene, Two-Hit mutation)
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What is the phenotype of Mylogenous Leukemia?
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Leukemia: Leukocytosis, splenomegaly, fatigue, Blast Crisis fatal;
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What is the translocated chromosome in Chronic Myelogenous Leukemia?
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Philadelphia Chromosome
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What is a Philadelphia Chromosome?
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Translocation between chromosome 9 and 22 affecting the ABL and BCR gene regions. Causes Chronic Myelogenous Leukemia
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What is the inheritance pattern for Chronic Myelogenous Leukemia?
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Somatic mutation and can not be inherited
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What is the inheritance pattern for Cystic Fibrosis?
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Autosomal Recessive
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What gene is affected by Cystic Fibrosis?
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CFTR gene on chromosome 7q31 which codes for a protein that is a regulated CL- channel located in the apical membrane of the epithelial cells.
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What is the most common mutation allele for the CF gene?
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del F508
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What is included in the phenotype for cystic fibrosis?
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Pulmonary disease, pancreatic insufficiency, sweat chloride, and neonatal onset.
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What is the inheritance for Duchenne Muscular Dystrophy?
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X-linked recessive inheritance (de novo mutation)
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What is the genetic mutation for duchenne muscular dystrophy?
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DMD Mutation (deletions and duplications) which normally encodes for the protein dystrophin.
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What is a positive Gower sign and what syndrome is it associated with?
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This is a specific getting up routine in which the child uses the upper extremity to help himself. Suggests severe impairment of lower extremity muscles. Associated with Duchenne's Muscular dystrophy.
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What type of gene is contributes to Familial Adenomatous Polyposis (FAP)?
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A Tumor Suppression gene mutation is associated with this cancer. Specifically the APC tumor suppressor gene.
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What is the inheritance pattern for familial adenomatous polyposis (FAP)?
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autosomal dominant (Two-hit mutation)
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What is the phenotype for familial adenomatous polyposis?
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an enormous amount of polyps in the colon and colorectacl cancer.
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What type of inheritance does Familial hypercholestrolemia have?
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autosomal dominant, with environmental modifiers
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Where is the mutation for familial hypercholesterolism?
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Mutation in the LDL Receptor mutation causes this disorder of cholesterol and lipid metabolism.
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What is the phenotype for familial hypercholesterolism?
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hypercholesterolemia, atherosclerosis, Xanthomas, Arcus cornea
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What is the phenotype for Fragile X syndrome?
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mental retardation, dysmorphic facies, male macroorchidism (abnormally large testes)
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How is Fragile X Syndrome inherited?
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X-Linked recessive
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What is the mutation associated with Fragile X Syndrome?
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FMR1 Mutation which is a triplet repeat expansion with hypermethylation leading to loss of expression.
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What is the inheritance pattern for hemophilia?
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X-Linked recessive disorder
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What is the mutation associated with hemophilia A and B?
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F8C or F9 mutation (factor 8 or 9) [del, ins, point mutations, inv]
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What is the phenotype for hemophilia?
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Bleeding diathesis, hemarthroses, hematomas
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What is a curative therapy for Chronic myelogenous Leukemia?
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allogeneic bone marrow transplantation
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What type of cancer gene contributes to chronic myelogenous leukemia?
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oncogene. Specifically the BCR-ABL (fusion protein) oncogene
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What type of gene contributes to hereditary nonpolyposis colon cancer and which gene specifically? (of the three types of genes contributing to cancer)
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This is a DNA mismatch repair gene cancer. Specifically MSH2 and MSL1 among others.
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What type of inheritance pattern does hereditary nonpolyposis colon cancer have?
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Autosomal dominant with incomplete penetrance
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What phenotypes are associated with Hereditary Nonpolyposis Colon Cancer?
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Has variable expressivity. Colorectal cancer with increased risks of endometrial, stomach, biliary tract and other cancers.
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What is the inheritance pattern for Huntington Disease?
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Autosomal Dominant
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What is the phenotype for Huntington disease?
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The phenotype for this neurodegenerative disease includes motor, cognitive, psychiatric abnormalities
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What mutation is Huntington's Disease caused by?
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the HD mutation is a triplet repeat expansion.
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How is Marfan Syndrome inherited?
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Autosomal dominant
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What mutation is associated with the connective tissue disorder, Marfan Syndrome?
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Mutation in Fibrilli-1 gene
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What is the phenotype for Marfan Syndrome
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Multisystem: skeletal (scoliosis, disproportionately tall, joint laxity); ocular (extopia lentis, flat corneas) cardiovascular (mitral valve prolapse, aortic problems); pulmonary (spontaneous pneumo-thorax and apical blebs); skin (striae atrophicae, recurrent herniae); dural (lumbosacral extasia)...phenotypes consistent within families but severities vary.
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What is the major cause of premature death for Marfan Syndrome?
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heart failure
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What is the genetic cause of Miller Dieker Syndrome and how is this diagnosed?
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hemizygous deletion on Chromosome 17p13 (LIS 1 gene) and diagnosed via FISH
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What is the phenotype for Miller-Dieker Syndrome?
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Lissencephaly (smooth-brain); facial dysmorphism, global mental deficiency, early death, seizures
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How is Myclonic Epilepsy with Ragged-red Fibers inherited?
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Matrilineal, mitochondrial DNA
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What is the phenotype associated with Myclonic Epilepsy with Ragged-red Fibers?
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dementia, myopathy, myclonic seizures, ataxia, deafness.
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How is retinoblastoma inherited?
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Autosomal Dominant
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What type of gene contributes to retinoblastoma?
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tumor suppressor gene (Rb mutation); follows two hit mechanism
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What typically differentiates sporadic from familial retinoblastoma?
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Familial- Bilateral, multiple tumors, early onset (w/in first year), in germline
Sporadic- Unilateral, single tumor, later onset |
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What is the phenotype for Sex Reversal?
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Sterility, reduced secondary sexual features, unambiguous genitalia
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What is the genetic basis for Sex Reversal?
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Chromosomal or Y-Linked inheritance (caused by an SRY on an X chromosome) mutation, deletion or translocation.
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How can Sex Reveral be diagnosed?
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FISH
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How is Tay-Sachs Disease inherited and what population is it associated with?
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Autosomal Recessive in Ashkenazic Jewish population
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What is the mutation causing Tay-Sachs disease?
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HEXA mutation affecting ganglioside metabolism
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What is the phenotype for Tay-Sachs disease?
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Neurodegeneration, retinal Cherry-redspot, psychosis
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How is thrombophilia inherited?
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Autosomal Dominant
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What genes are mutated in thrombophilia
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There is a gain of function for the FV gene and a loss of function of the PROC gene
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What is the phenotype for Thrombophilia?
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deep vein thrombosis (blood clot)
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What event leads to Turner Syndrome?
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X monosomy and variants. Due to nondisjunction
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What is the phenotype for Turner Syndrome?
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short stature, ovarian dysgenesis, sexual immaturity, congenital lymphedema, infertility, web neck in adults, coarctation of aorta
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What treatment is involved with Turner Syndrome?
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parent counseling, growth hormone, estrogen and progesterone
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What other disorder is associated with the same chromosomal mutation as Prader-Willi Syndrome and how do these two differ genetically?
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Angelman Syndrome- The absence of maternally derived 15q11-q13 (by maternal del of 15q11-q13, or paternal uniparent disomy of chromosome 15s)
Prader-Willi- the absence of paternally derived 15q11-q13. (by paternal del, or maternal uniparental disomy of chromosome 15s) |
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What is the phenotype for Prader Willi Syndrome
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infantile feeding difficulties, hyperphagia, obesity, hypotonia, cognitive impairment, sterility, dysmorphism
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What is the major cause of morbidity for the Prader-Willi syndrome?
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Obesity including cardiopulmonary disease and type 2 diabetes mellitus
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