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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
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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
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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)
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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5 mins

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