'Achondroplasia' diaporamas de présentation

Get Ready for A & P!

Get Ready for A & P!. Genetics, Genetic Abnormalities & Bioethics. Early Ideas about Heredity . People knew that sperm and eggs transmitted information about traits Blending theory - traits blended Problem: Would expect variation to disappear However, variation in traits persists.

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Pediatrics Seminar

Pediatrics Seminar. Preseted by: Fahd Alareashi & ??????????. Case Scenario:. A 10-year-old girl presents to the clinic with her parents. Her parents report that she is the shortest in her class.

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Diseases of jaws and maxillary sinus

Diseases of jaws and maxillary sinus. Jan Laco, M.D., Ph.D. Diseases of jaws and maxillary sinus. 1. Jaws 2. Temporomandibular joint 3. Maxillary sinus. 1. Diseases of jaws. 1a. Genetic diseases 1b. Metabolic diseases 1c. Diseases of unknown origin 1d. Inflammations 1e. Cysts

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Section 1: Basic Patterns of Human Inheritance

Chapter 11 Complex Inheritance and . Human Heredity. Section 1: Basic Patterns of Human Inheritance. Section 2: Complex Patterns of Inheritance. Section 3: Chromosomes and Human Heredity. Review overhead notes. Complex Inheritance and Human Heredity. Chapter 11.

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Monday, November 26 * Lecture: Karyotypes, Chromosomal Mutations and

Monday, November 26 * Lecture: Karyotypes, Chromosomal Mutations and Sex-Linked Traits * Homework: Worksheet - Due tomorrow. Karyotypes * A karyotype is picture of the homologous chromosomes * Humans have 23 homologous pairs of chromosomes

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??? ?? ?? ? ? ?? ???? ?? ( ? 26 ? ). D 01. ???????????????? ?? ? ???????????????? ? ( A) ?????????? (B) ???? ( C ) ????? (D) ?????????? ? ? ?????????? ?? '04 ??? B 02. ???????? (A) ??????? (B ) ?? ???? 8 ? (C) ????? 16 ? (D) ? ? ??? 12 ?????? '04 ?? ? A 03. ????????????????? ?

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Patterns of Inheritance: Dominant Disorders

Patterns of Inheritance: Dominant Disorders. Helen Lord, September 2009. Overview. Discuss with examples: Dominant-Negative mutations Gain of function mutations Haploinsufficiency How to distinguish between these experimentally. Dominant-negative mutations.

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Louise McClelland FRCpath 12 th January 2011

Pick a test in your lab and cost it including all the components that make up the cost of a test service. Louise McClelland FRCpath 12 th January 2011. Keywords. Trust overheads Departmental overheads Estimates Pension National insurance. Costing considerations. Labour Equipment

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Achondroplasia

Achondroplasia. By: Tyler Denney, Avery Falick, Valerie Finstad, Matt Lien. Type of Genetic Disorder. Achondroplasia is an autosomal dominant genetic disorder. Over 80% of people with Achondroplasia have parents that are totally unaffected! It is caused by a gene mutation.

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Achondroplasia (Dwarfism)

Achondroplasia (Dwarfism). By Maddie Alm and Kirk Webb. Inheritance. Achondroplasia is a dominant gene. It is inherited in an autosomal dominant pattern (you only need one copy of the altered gene for the disorder to show up). Genotypes.

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Achondroplasia

Presented by: Britt Shields and Connor Nash. Achondroplasia. Overview. Achondroplasia is the common cause of dwarfism Approximately 1 in every 25,000 have this disorder The average height of a person with Achondroplasia is beween 4 feet and 4 feet 4 inches. Medical Research.

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Achondroplasia

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Achondroplasia- Dwarfism

Achondroplasia- Dwarfism. By: Melissa Findlay. Who is most likely to get Achondroplasia?.

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By Garcelle.Herke Period 3

Achondroplasia (Dwarfism). By Garcelle.Herke Period 3. How does a person inherit it?. It occurs as a sporadic mutation in about 85% of cases May be inherited in an autosomal dominant genetic disorder. What are the possible genotypes of the parents?.

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Achondroplasia

Achondroplasia. Presentation by: Sarah Maas, Isabelle McKusick and Betty House November 16, 2005. What is Achondroplasia? . Achondroplasia is an autosomal dominant condition It was discovered in 1994 by Dr. John Wasmuth

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Achondroplasia

Achondroplasia. By Kait Keaveny. Achondroplasia. Autosomal Dominant Disorder. Affects about 1 in 25,000 people. About 98% of those with achondroplasia have a point mutation in the FGFR3 gene at 4p16.3 that encodes fibroblast growth factor receptor 3. The penetrance of the gene is 100%

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Achondroplasia By: Adam Tarnasky and Shu Wang

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