Lincoln Shared "Genetics" - 21 Picmonics

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Genetics

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
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
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
Ehlers-Danlos Syndrome Disease
Pathophysiology
Faulty Collagen Synthesis
Autosomal Dominant or Recessive
Various Severities
Signs and Symptoms
Hypermobile Joints
Hyperextensible Skin
Easy Bruising/Bleeding
Berry (Saccular) Aneurysm
Considerations
Brighton Criteria
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2 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
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
Cystic Fibrosis Symptoms and Complications
Recurrent Pulmonary Infections
Chronic Bronchitis
Nasal Polyps
Pancreatic Insufficiency
Intestinal Obstruction
Malabsorption and Diarrhea
Vitamin Deficiencies
Chronic Hepatic Disease
Infertility in Males
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1 min
Cystic Fibrosis Diagnosis and Treatment
Diagnosis
Sweat chloride test > 60 mmol/L
Meconium Ileus
Treatment
N-acetylcysteine
Antibiotic Prophylaxis
Pulmonary Maintenance
Lung transplant
Vitamin Replacement
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1 min
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
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 (Mental Retardation)
Hypopigmentation
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2 mins
Hemochromatosis Pathophysiology
Pathophysiology
Hemosiderin Deposition
Autosomal Recessive
HLA-A3
Secondary to Transfusion Therapy
Increase Iron
Increase Ferritin
Increased Transferrin Saturation
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2 mins
5 Alpha Reductase Deficiency
Autosomal Recessive
Inability to Convert Testosterone to DHT
Normal Internal Genitalia
Ambiguous External Genitalia until Puberty
Masculinization During Puberty with Growth of External Genitalia
LH can be Increased
Normal Estrogen, LH, and Testosterone levels
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2 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
Myotonic Dystrophy
Pathophysiology
Autosomal Dominant
Trinucleotide Repeat
CTG
Signs and Symptoms
Facial Muscle Weakness
Frontal Balding
Sustained Grip
Conduction Defects
Cataracts
Selective Atrophy of Type 1 Fibers
Testicular Atrophy
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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
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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
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3 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
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5 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)
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6 mins
Patau's Syndrome
Trisomy 13
Severe Intellectual Disability (Mental Retardation)
Microcephaly
Holoprosencephaly
Microphthalmia
Polydactyly
Cleft lip/cleft palate
Rocker bottom feet
Cystic kidneys
Ventricular Septal Defect (VSD)
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2 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
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2 mins

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