Mary Shared "Genetics exam 2" - 37 Picmonics
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Genetics exam 2
Familial Hypercholesterolemia (Type IIa Familial Dyslipidemia)
- INHERITANCE
- Autosomal Dominant
- PATHOGENESIS
- Defective or Absent LDL Receptors
- Defective Apolipoprotein B-100 (ApoB-100)
- Lab Findings
- Increased LDL
- Decreased HDL
- Type IIb also has Increased VLDL
- Symptoms/Findings
- Accelerated Atherosclerosis
- Achilles Tendon Xanthomas
- Xanthelasma
- Corneal Arcus
4 mins
Neurofibromatosis Type 1
- Pathophysiology
- Autosomal Dominant
- Chromosome 17
- Signs and Symptoms
- Neurofibromas
- Optic Glioma
- Lisch Nodules
- Hamartomas
- Cafe Au Lait Spots
- Scoliosis
- Pheochromocytoma
4 mins
Marfan Syndrome
- Mechanism
- Fibrillin-1 Mutation
- Symptoms
- Autosomal Dominant
- Tall
- Arachnodactyly
- Pectus Excavatum
- Hypermobile Joints
- Aortic Aneurysm And Dissection
- Mitral Valve Prolapse (MVP)
- Subluxation of Lens (Superior)
2 mins
Huntington's Disease
- Pathophysiology
- Autosomal Dominant
- Trinucleotide Repeat
- CAG Repeats
- Chromosome 4
- Anticipation
- Caudate
- Decrease of ACh
- Decrease of GABA
- Signs and Symptoms
- Chorea
- Dementia
- Depression
- Glutamate Toxicity
- Neuronal Death via NMDA Binding
3 mins
Acute Intermittent Porphyria (AIP)
- Pathophysiology
- Autosomal Dominant
- Inhibited Porphobilinogen Deaminase
- Increased Serum Porphobilinogen
- Increased Serum Delta-ALA
- Increased Urinary Porphyrin Precursors
- Signs & Symptoms
- Precipitated By P450 Inducers
- Painful Abdomen
- Polyneuropathy
- Psychological Disturbances
- Port Wine-Colored Urine
- Treatment
- Glucose and Hemin
- Considerations
- Avoid Triggers
3 mins
Retinoblastoma
- Characteristics
- Loss of Heterozygosity
- Chromosome 13
- Children
- Presentation
- Leukocoria
- Strabismus
- Vision Loss
- Association
- Osteosarcoma
- Diagnosis
- Genetic Testing
- Management
- Cryotherapy
- Photocoagulation
- Chemotherapy or Radiation
- Surgery
3 mins
Achondroplasia
- Mechanism
- Autosomal Dominant
- Advanced Paternal Age
- Most Common Cause of Dwarfism
- Mutation of FGFR3 (Fibroblast Growth Factor Receptor 3)
- Defective Endochondral Ossification
- Symptoms
- Delayed Motor Milestones
- Shortened Limbs with Normal Axial Skeleton Size
- May Develop Hydrocephalus
- Symptoms of Spinal Stenosis
- Normal Life Span and Fertility
2 mins
Osteogenesis Imperfecta
- Pathophysiology
- Autosomal Dominant
- Decreased Type I Collagen Production
- Symptoms
- Phenotypically Diverse
- Brittle Bone Disease
- Fractures from Minimal Trauma
- Confused with Child Abuse
- Hearing Loss
- Dental Imperfections
- Blue Sclera
1 min
Lynch Syndrome (Hereditary Nonpolyposis Colorectal Cancer)
- Characteristics
- Autosomal Dominant
- Defective DNA Mismatch Repair
- 80% Risk of Colon Cancer Development
- Proximal (Right) Colon
- Type II associated with Endometrial, Ovarian and Skin Cancers
- 3-2-1 Rule
- 3 Relatives with Colon Cancer
- Occurs Across 2 Generations
- 1 Relative Diagnosed < 50 Years Old
- Treatment
- Frequent Screening
- Colectomy
3 mins
Cystic Fibrosis Mechanisms
- Autosomal Recessive
- CFTR Chromosome 7
- Cl- channel Defect
- Decreased Chloride Secretion
- Increased Na and Water Reabsorption
- Increased Na and Cl in Sweat
- Dehydration of Mucous Layers
2 mins
Phenylketonuria (PKU)
- Pathophysiology
- Decreased Phenylalanine Hydroxylase
- Decreased Tetrahydrobiopterin Cofactor
- Autosomal Recessive
- Tyrosine Becomes Essential
- Phenylalanine Found in Nutrasweet
- Symptoms
- Musty or Mousy Body Odor
- Growth Retardation
- Seizures
- Intellectual Disability
- Hypopigmentation
2 mins
Tay-Sachs Disease
- Pathophysiology
- Autosomal Recessive
- Hexosaminidase A Deficiency
- Increased GM2 Ganglioside
- More Common in Ashkenazi Jewish Population
- Signs and Symptoms
- Cherry Red Spot on Macula
- Neurodegeneration
- Developmental Delay
- Diagnosis
- Onion Skin Lysosomes
1 min
Sickle Cell Anemia (Mechanism)
- Intrinsic Normocytic Hemolytic Anemia
- Point Mutation
- Autosomal Recessive
- African American
- Dehydration or Decreased O2
- Newborns Asymptomatic
- Heterozygote Malarial Resistance
2 mins
Beta Thalassemia
- Mechanism
- Microcytic, Hypochromic Anemia
- Mediterranean Populations
- Decreased Beta-Globin
- Beta-Thalassemia Minor
- Increased HbA2
- No Intervention
- Beta-thalassemia Major
- Blood Transfusions
- Hemochromatosis
- Crew-cut on Skull X-Ray
- Diagnosis
- Electrophoresis
2 mins
Ataxia Telangiectasia
- Pathophysiology
- Autosomal Recessive
- ATM Gene
- Defect in DNA repair
- Signs & Symptoms
- Cerebellar defects
- Spider Angiomas
- Sensitive to Radiation
- Defective Tumor Suppressor Gene
- Increased risk of Cancer, Leukemias, and Lymphomas
- Increased AFP levels
- IgA deficiency
- Repeated sinopulmonary infections
2 mins
Niemann-Pick Disease
- Pathophysiology
- Autosomal Recessive
- Sphingomyelinase Deficiency
- More Common in Ashkenazi Jewish Population
- Signs and Symptoms
- Cherry Red Spot on Macula
- Hepatosplenomegaly
- Neurodegeneration
- Diagnosis
- Foam Cells
1 min
Xeroderma Pigmentosum
- Pathophysiology
- Defective Nucleotide Excision Repair
- Pyrimidine Dimer Accumulation
- Autosomal Recessive
- Susceptible to UVA and UVB Rays
- Presentation
- Actinic Keratosis
- Neurodegeneration
- Photosensitivity
- Corneal Ulcers
- Hyperpigmented Lentigines
- Considerations
- Increased Risk of Skin Cancer
3 mins
Fragile X
- Pathophysiology
- Trinucleotide Repeat
- CGG Repeats
- FMR1 Gene
- X-linked Dominant
- Signs and Symptoms
- Developmental Delay
- Autism
- Large Ears
- Large Jaw
- Long Face
- Macroorchidism
2 mins
Alport Syndrome
- Pathophysiology
- Nephritic
- X-linked
- Mutation in Type IV Collagen
- Diagnosis
- Split Basement Membrane
- Basket Weave Appearance
- Signs and Symptoms
- Ocular Disorders
- Deafness
2 mins
Rett Syndrome
- Pathogenesis
- Sporadic Neurological Disorder
- De Novo Mutation of MECP2 on X Chromosome
- RISK FACTORS & SYMPTOMS
- Seen Almost Exclusively In Girls
- Affected Males Die in Utero or Shortly After Birth
- Symptoms Usually Appear Between Ages 1-4
- Developmental Regression
- Motor Impairment
- Intellectual Disability (Mental Retardation)
- Loss of Verbal Abilities
- Seizure
- Stereotyped Hand Wringing
- Decelerated Head Growth (Microcephaly)
- Breathing Problems
- Ataxia
5 mins
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