Elizabeth Shared "Week 2_FMS" - 36 Picmonics
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Week 2_FMS
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
Friedreich's Ataxia
- Trinucleotide Repeat
- GAA Repeat
- Frataxin
- Mitochondrial Dysfunction
- Autosomal Recessive
- Hammertoes
- High Arches
- Kyphoscoliosis
- Lateral Corticospinal Tract
- Posterior Column
- Spinocerebellar Tract
- Type I Diabetes Mellitus
- Hypertrophic Cardiomyopathy
1 min
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
Cri Du Chat
- Pathophysiology
- Congenital Deletion of Short Arm of Chromosome 5p
- Signs and Symptoms
- High Pitched Cry/Mewing
- Microcephaly
- Hypotonia
- Difficulty Sucking and Swallowing
- Epicanthal Folds
- Widely Spaced Eyes
- Wide & Flat Nasal Bridge
- High Arched Palate
- Intellectual Disability
- Cardiac Abnormalities
3 mins
Patau Syndrome
- Pathophysiology
- Trisomy 13
- Signs and Symptoms
- Severe Intellectual Disability
- Microcephaly
- Holoprosencephaly
- Microphthalmia
- Polydactyly
- Cleft Lip/Cleft Palate
- Rocker Bottom Feet
- Omphalocele
- Cystic Kidneys
- Ventricular Septal Defect (VSD)
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
Down Syndrome
- Pathophysiology
- Trisomy 21
- Meiotic Nondisjunction
- Signs and Symptoms
- Intellectual Disability (Mental Retardation)
- Single palmar crease
- Flat Facies
- Duodenal Atresia
- Hirschsprung's Disease
- Septum Primum Type ASD
- Endocardial Cushion Defects
- Prominent Epicanthal Folds
- Increased Risk of Acute Lymphoblastic Leukemia
- Alzheimer's Disease
3 mins
Edwards Syndrome
- Pathophysiology
- Trisomy 18
- Signs and Symptoms
- Intellectual Disability (Mental Retardation)
- Rocker Bottom Feet
- Ventricular Septal Defect (VSD)
- Clenched Hands
- Overlapping Fingers
- Low-Set Ears
- Micrognathia
- Prominent Occiput
- Omphalocele
- Meckel's Diverticulum
- Horseshoe Kidney
- Malrotation of Intestines
3 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
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
DNA Base Pairing
- Characteristics
- 3' End
- 5' End
- Antiparallel Base Pairing
- Complementary Strands Pair
- Thymine And Adenine Pair
- 2 Hydrogen Bonds
- Adenine and Uracil Pair in RNA
- Guanine And Cytosine Pair
- 3 Hydrogen Bonds
3 mins
RNA
- Characteristics
- mRNA
- 3' Poly A Tail
- 5' Cap
- Template For Translation
- rRNA
- Catalyzes Amino Acid Bonds
- Component of Ribosome Enzyme
- tRNA
- Anticodon Region
- 3' Tail Bind To Amino Acid
2 mins
Transcription Overview
- Initiation
- RNA Polymerase Binds Promoter
- Elongation
- DNA Opens by Helicase
- RNA Polymerase Reads 3' to 5'
- Nucleotides Added to 3' End
- Termination
- Stem Loop Formation
- Rho Protein Factor
3 mins
Eukaryotic Transcription Regulation
- DNA Silencer Region
- Transcription Factors bind Silencer Region
- Decreased Transcription
- Co-factors can deactivate factors
- Co-factors can activate factors
- DNA Enhancer Region
- Transcription Factors bind Enhancer Region
- Increased Transcription
- Enhancer and Silencer regions can be far from Promoter
2 mins
Codon Overview
- Characteristics
- mRNA Read In Three Nucleotide Chunks
- AUG Is Start Codon
- Matching tRNA Anticodon
- Amino Acid Specific (To Codon)
- AUG Codes For Methionine
- UAA, UAG And UGA Are Termination Codons
2 mins
Eukaryotic Post Transcriptional Modification
- Modifications in Nucleus
- mRNA Splicing
- Introns Cut Out
- Exons spliced together
- Alternate Splicing
- 5' Cap added
- 3' Poly A tail added
- Transported to Cytosol
2 mins
Translation: Initiation
- Translation: Initiation
- Ribosome Binds mRNA
- Complex Reads 5' to 3'
- AUG Start Codon
- Initiation Complex Forms
- GTP and Initiation Factor Bring Complex Together
- Met-tRNA Binds P Site
- tRNA With Bound Amino Acids Binds A Site
- Amino Acid Chain Created in Elongation
3 mins
Klinefelter's Syndrome
- Pathophysiology
- Male (XXY)
- Signs and Symptoms
- Eunuchoid Body Shape
- Gynecomastia and Female Hair Distribution
- Testicular Atrophy
- Dysgenesis of Seminiferous Tubules
- Possible Developmental Delay
- Hypogonadism
- Decreased Inhibin B
- Increased FSH
- Abnormal Leydig Cell Function
- Decreased Testosterone
- Increased LH
- Increased Estrogen
- Barr body (inactivated X chromosome)
6 mins
Turner Syndrome
- Signs and Symptoms
- Female (XO)
- Short stature
- Shield Chest
- Cystic Hygroma (Webbing of Neck)
- Lymphedema in Hands and Feet
- Ovarian Dysgenesis
- Streak Ovary
- Decreased Estrogen
- Increased FSH
- Increased LH
- Dysgerminoma
- Bicuspid Aortic Valve
- Preductal Coarctation of the Aorta
- Horseshoe Kidney
- Menopause before Menarche
- Amenorrhea
5 mins
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
