'Affected males' diaporamas de présentation

Assignments

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Sex Chromosomes

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Genetic Disorders

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Chapter 11 Complex Inheritance and Human Heredity

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Midterm

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People have understood for centuries that certain traits are inherited (transmitted from

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Autosomal Dominant Disorders

Autosomal Dominant Disorders. More than half of Mendelian phenotypes are autosomal dominant Examples: Familial hypercholesterolemia Myotonic dystrophy Huntington disease Neurofibromatosis Polycystic kidney disease Achondroplasia.

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Basic Concepts in Genetics

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6 th October 2008

Outline the different patterns of inheritance associated with X linked genes. Where possible give a molecular explanation for the pattern. 6 th October 2008. X Linked Inheritance. Refers to the pattern of inheritance of a condition caused by a mutations in a gene located on the X chromosome.

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Sex Linked Inheritance

Sex Linked Inheritance. A human female, has 23 pair of chromosomes A human male, has 22 similar pairs and one pair consisting of two chromosomes that are dissimilar in size and structure. The 23 rd pair in both the sexes is called sex chromosomes the female, XX. the male, XY.

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Mendelian Inheritance

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Autosomal Recessive Inheritance

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Autosomal Recessive Inheritance

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Pedigree Analysis

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Pedigree Analysis

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Pedigrees

Pedigrees. Pedigrees. Pedigrees show how a trait/disorder is passed from one generation to the next Symbols: Squares = males (XY), circles = females (XX) Horizontal lines connect breeding couples Vertical lines connect parents to children Shading (filled in) = individual has the trait

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Autosomal Recessive Inheritance

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CHAPTER 17 Fragile X Syndrome

CHAPTER 17 Fragile X Syndrome. TONY, JEAN, AND SYLVIA (Case Study) PREVALENCE THE GENETICS OF FRAGILE X SYNDROME CLINICAL FINDINGS IN AFFECTED MALES CLINICAL FINDINGS IN AFFECTED FEMALES ORIGINS OF ABNORMALITIES DIAGNOSING FRAGILE X SYNDROME INTERVENTION STRATEGIES OUTCOME SUMMARY.

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