Notes in 15 Genetics

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1. Understanding Genetics
2. Genetic Syndromes

Status	Last Update	Fields
Published	02/10/2024	Mendelian Inheritance is a {{c1::type of inheritance that occurs when the cause of a disease is a single abnormal gene on a non-sex chromosome (i.e. a…
Published	02/10/2024	Features of Autosomal {{c2::Dominant}} Inheritance {{c1::There are no carriers; if one has the single gene disease then they have the diseas…
Published	02/10/2024	Features of Autosomal {{c2::Recessive}} Inheritance {{c1::There are carriers; if one has the single gene disease.}} {{c1::It is possible to inherit an…
Published	02/10/2024	Examples of Autosomal Dominant Conditions {{c1::Tuberous sclerosis (TS)}} {{c1::Neurofibromatosis 1 (NF1)}} {{c1::Myotonic dystrophy}}
Published	02/10/2024	Examples of Autosomal Recessive Conditions{{c1::Cystic Fibrosis (CF)}}
Published	02/10/2024	Examples of X-Linked Conditions{{c1::Duchenne Muscular Dystrophy}}
Published	02/10/2024	Type of Gene Mutations that give rise to Cancer are {{c1::Germline}} Mutations which are heritable, and {{c1::Somatic}} Mutations which are nonhe…
Published	02/10/2024	In Familial cancer, the first mutation is {{c1::inherited}} and the second is {{c1::somatic}}
Published	02/10/2024	In Sporadic cancer, both mutations are {{c1::somatic i.e. not inherited}}
Published	02/10/2024	Three Stops/Processes of the Cell Cycle that play a role in Cancer Development [1] {{c1::Oncogenes (involved in cell growth)}}[2] {{c1:…
Published	02/10/2024	{{c2::Oncogenes}} is a Cell Cycle Process that is commonly mutated in {{c1::Sporadic}} types of Cancer
Published	02/10/2024	Faulty {{c2::DNA mismatch repair}} is the main cause of {{c1::Familial}} types of Cancer
Published	02/10/2024	Genes associated with Breast Cancer and Ovarian Cancer {{c1::BRCA1 (More associated with Breast)}} {{c1::BRCA2}}
Published	02/10/2024	Suspicion of Hereditary Cancer Syndromes {{c1::Cancer in 2 or more close relatives}} {{c1::Early age diagnosis}} {{c1::Multiple primary tumors}} {{c1:…
Published	02/10/2024	Clinical Genetics Consultation involves disucssion of: {{c1::Family history}} {{c1::Risk estimation}} {{c1::Explanation of basis of risk}} {{c1::Inter…
Published	02/10/2024	Three Modes of Inheritance in Genetic Multi-System Disease {{c1::Chromosomal (Numerical or Structural)}} {{c1::Single gene disorders (Autosomal domina…
Published	02/10/2024	Neurofibromatosis 1 (NF1) is an {{c1::autosomal dominant disease that causes tumours to grow along your nerves, these tumours are usually benign}}
Published	02/10/2024	Diagnostic Criteria of {{c2::Neurofibromatosis 1 (NF1)}} {{c1::Cafe au lait spots (≥6)}} {{c1::Neurofibromas (≥2)}} {{c1::Lisch nodules}} {{c1::Optic …
Published	02/10/2024	Management of Neurofibromatosis 1 (NF1) {{c1::Annual review}} {{c1::Blood pressure control}} {{c1::Spine health for scoliosis}} {{c1::Tibia for unusua…
Published	02/10/2024	Neurofibromatosis 2 (NF2) is a {{c1::chromosomal disease linked to a mutation on chromosome 22 presenting with a unique set of symptoms}}
Published	02/10/2024	Presentation of {{c2::Neurofibromatosis 2 (NF2)}} {{c1::Bilateral acoustic neuroma}} {{c1::CNS and Spinal tumours}} {{c1::Cafe au lait spots}}
Published	02/10/2024	Tuberous Sclerosis (TS) is an {{c1::autosomal dominant disease that causes hamartomas to grow on different organs of the body}}
Published	02/10/2024	Presentation of {{c2::Tuberous Sclerosis (TS)}} {{c1::Triad of epilepsy (infantile spasms, myoclonic seizures) learning difficulty skin lesions (macul…
Published	02/10/2024	Screening for Tuberous Sclerosis (TS)[1] {{c1::Examination of skin & retina (macules, angiofibromas, fibrous plaque on forehead) and (retinal…
Published	02/10/2024	Myotonic dystrophy is an {{c1::autosomal dominant disease that is characterized by progressive muscle wasting and weakness}}
Published	02/10/2024	Presentation of {{c2::Myotonic dystrophy}} {{c1::Bilateral late-onset cataract}} {{c1::Muscle weakness, stiffness, prolonged contractions (myotonia)}}…
Published	02/10/2024	Clinical Features of {{c2::Amyotrophic Lateral Sclerosis}} {{c1::Progressive muscle weakness and wasting (limbs and bulbar muscles)}} {{c1::Increased …
Published	02/10/2024	Huntington’s disease is an {{c1::autosomal dominant disease that starts in adult stage with progressive degeneration of nerve cells in the brain}}
Published	02/10/2024	Clinical Features of {{c2::Huntington’s Disease}} {{c1::Late Onset: 30’s — early 40’s}} {{c1::Movement disorder (chorea, athetosis, myoclonus, rigidit…
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