Ahmed Emad Shared "Challenging Genetics" - 7 Picmonics
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Challenging Genetics
- 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
- 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)
- 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
- 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
- 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)
- 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)
- Gs-protein activating mutation
- Unilateral café-au-lait spots with ragged edges
- Polyostotic Fibrous Dysplasia
- At Least One Endocrinopathy
- Precocious puberty
- Lethal if mutation occurs before fertilization (affecting all cells), but survivable in patients with mosaicism
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