Wayne Shared "temp trisomy" - 20 Picmonics
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temp trisomy
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
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
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
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
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
Prader-Willi Syndrome
- Mechanism
- Maternal Imprinting
- Deletion of Chromosome 15q (Paternal Deletion)
- Signs And Symptoms
- Hyperphagia
- Truncal Obesity
- Hypogonadism
- Undescended Testicles (Cryptorchidism)
- Intellectual Disability (Mental Retardation)
- Neonatal Hypotonia (Floppy Baby)
- Almond Shaped Eyes
- Narrow Bifrontal Diameter
- Thin Upper Lip
3 mins
Angelman's Syndrome
- Mechanism
- Paternal Imprinting
- Deletion of Chromosome 15q (Maternal Deletion)
- Signs And Symptoms
- Happy Puppet Syndrome
- Inappropriate Laughter
- Ataxia
- Severe Intellectual Disability (Mental Retardation)
- Seizure
- Abnormal EEG
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
Neurofibromatosis Type 2
- Pathophysiology
- Autosomal-Dominant
- Chromosome 22
- Signs and Symptoms
- Vestibular Schwannoma
- Meningioma
- Ependymoma
- Cafe Au Lait Spots
- Cataracts
2 mins
Cell Cycle Phases
- Characteristics
- G0 Phase
- Growth Arrest
- G1 Phase
- G1 Check By Rb And p53
- S Phase
- DNA Mismatch Repair
- DNA Synthesis
- G2 Phase
- G2 Check
- M Phase
- Mitosis And Cytokinesis
3 mins
Prophase
- Nuclear Membrane Disintegrates
- Centrioles Migrate
- Spindle Apparatus Forms
- Meiosis I starts Diploid
- Homologous Chromosomes form Tetrads
- Tetrads Cross Over
- Meiosis II starts Haploid
- Mitosis starts Diploid
- Sister Chromatid Pairs Stay Separated
2 mins
Anaphase
- Spindle Microtubules from Centrioles Split Pairs
- Meiosis I Tetrad Splits into Two Sister Chromatid Pairs
- Meiosis II Sister Chromatid Pair Splits into Two Chromatids
- Mitosis Sister Chromatid Pair Splits into Two Chromatids
1 min
Metaphase
- Characteristics
- Microtubules Extend from Centrioles' Spindles
- Centromere
- Kinetochore
- Meiosis I Tetrads Aligned at Metaphase Plate
- Meiosis II Sister Chromatids Aligned at Metaphase Plate
- Mitosis Sister Chromatids Aligned at Metaphase Plate
57 secs
Telophase
- Cytokinesis Divides Cells
- Meiosis I Cell Ends Haploid
- Meiosis II Cell Ends Haploid
- Mitosis Cell Ends Diploid
- Chromosomes Decondense into Chromatin
- Nuclear Membrane Reforms
1 min
Meiosis I
- Characteristics
- Prophase I
- Centrioles Migrate
- Spindle Apparatus Forms
- Nuclear Membrane Disintegrates
- Metaphase I
- Microtubules Extend from Centrioles Spindle
- Spindle Fibers Attach to Centromere
- Fused at Kinetochore
- Randomly Align at Metaphase Plate
- Anaphase I
- Spindle Microtubules from Centrioles Split Pairs
- Tetrad Splits into 2 Sister Chromatid Pairs
- Telophase I
- Cytokinesis Divides Cell
3 mins
Meiosis II
- Prophase II
- Centrioles Migrate
- Spindle Apparatus Forms
- Nuclear Membrane Disintegrates
- Metaphase II
- Sister Chromatids Align at Metaphase Plate
- Anaphase II
- Sister Chromatids Pulled Apart Into Two
- Telophase II
- Cytokinesis Divides Cells
- 4 Haploid Daughter Cells
2 mins
Oogenesis
- Characteristics
- Primary Oocytes From Birth
- Meiosis I Once a Month
- Secondary Oocyte Plus Polar Body
- Frozen in Metaphase II, in Meiosis II
- Ovulation
- Fertilization by Sperm
- Meiosis II
- Ovum
- Zygote Forms
2 mins
Spermatogenesis
- Seminiferous Tubules
- Sertoli Cells
- Spermatogonia
- Mitosis
- Primary Spermatocyte
- Meiosis I
- Secondary Spermatocyte
- Meiosis II
- Spermatid
- Spermatozoa
- Acrosome
- Flagellum
2 mins
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
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
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