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Authors: Michael Kahn, D.D.S., Lynn W. Solomon, D.D.S.
Basic Human Pathology Lecture #3 Developmental and Genetic Factors in Disease Basic Human Pathology Lecture #3 Developmental and Genetic Factors in Disease
Introduction – Basic of Genetics Introduction – Basic of Genetics
Mendelian Genetics Mendelian Genetics
Mendelian Genetics Mendelian Genetics
Genetic Predisposition to Disease Genetic Predisposition to Disease
Gene Defects Gene Defects
Abnormal Fetal Development Abnormal Fetal Development
Agenesis Agenesis
Hypoplasia of Arm - Phocomelia Hypoplasia of Arm - Phocomelia
Developmental and Genetic Factors in Disease: Slide 10 Developmental and Genetic Factors in Disease: Slide 10
Developmental and Genetic Factors in Disease: Slide 11 Developmental and Genetic Factors in Disease: Slide 11
Chromosomal Disorders Chromosomal Disorders
Chromosomal Disorders Chromosomal Disorders
Chromosomal Disorders Chromosomal Disorders
Chromosomal Disorders Chromosomal Disorders
Chromosomal Disorders Chromosomal Disorders
Chromosomal Disorders Chromosomal Disorders
Chromosomal Disorders Chromosomal Disorders
Chromosomal Disorders Chromosomal Disorders
Translocations Translocations
Robertsonian Translocation Consequence Robertsonian Translocation Consequence
Karyotype Analysis - Chromosomal Spreads Karyotype Analysis - Chromosomal Spreads
Nomenclature and Notation of Karyotype Analysis Nomenclature and Notation of Karyotype Analysis
Sex Chromosomes: X inactivation and Barr body formation Sex Chromosomes: X inactivation and Barr body formation
Sex Chromosomes: X inactivation and Barr body formation Sex Chromosomes: X inactivation and Barr body formation
Sex Chromosomes: X inactivation and Barr body formation Sex Chromosomes: X inactivation and Barr body formation
Causes of Chromosomal Disorders Causes of Chromosomal Disorders
Chromosomal Disorders Chromosomal Disorders
Developmental and Genetic Factors in Disease: Slide 29 Developmental and Genetic Factors in Disease: Slide 29
Abnormalities of Autosomal Chromosomes Abnormalities of Autosomal Chromosomes
Down syndrome - Features Down syndrome - Features
Abnormalities of Autosomal Chromosomes Abnormalities of Autosomal Chromosomes
Developmental and Genetic Factors in Disease: Slide 33 Developmental and Genetic Factors in Disease: Slide 33
Abnormalities of Autosomal Chromosomes Abnormalities of Autosomal Chromosomes
Abnormalities of Autosomal Chromosomes Abnormalities of Autosomal Chromosomes
Abnormalities of Autosomal Chromosomes Abnormalities of Autosomal Chromosomes
Common Autosomal Trisomies Common Autosomal Trisomies
Abnormalities of Sex Chromosomes Abnormalities of Sex Chromosomes
Developmental and Genetic Factors in Disease: Slide 39 Developmental and Genetic Factors in Disease: Slide 39
Developmental and Genetic Factors in Disease: Slide 40 Developmental and Genetic Factors in Disease: Slide 40
Abnormalities of Sex Chromosomes Abnormalities of Sex Chromosomes
Klinefelter Syndrome - Turner Syndrome Klinefelter Syndrome - Turner Syndrome
Normal Karyotype Normal Karyotype
Developmental and Genetic Factors in Disease: Slide 44 Developmental and Genetic Factors in Disease: Slide 44
Abnormalities Due to Increased Numbers of Trinucleotide Repeats Abnormalities Due to Increased Numbers of Trinucleotide Repeats
Abnormalities Due to Increased Numbers of Trinucleotide Repeats Abnormalities Due to Increased Numbers of Trinucleotide Repeats
Fragile X Syndrome Fragile X Syndrome
Modes of Inheritance of Monogenic Disorders Modes of Inheritance of Monogenic Disorders
Modes of Inheritance of Monogenic Disorders Modes of Inheritance of Monogenic Disorders
Autosomal Dominant Pedigree Autosomal Dominant Pedigree
Autosomal Dominant Disorders Autosomal Dominant Disorders
Autosomal Dominant Disorders Autosomal Dominant Disorders
Autosomal Dominant Disorders Autosomal Dominant Disorders
Hereditary Hemorrhagic Telangiectasia Hereditary Hemorrhagic Telangiectasia
Autosomal Dominant Disorders Autosomal Dominant Disorders
Autosomal Dominant Disorders Autosomal Dominant Disorders
Marfan Syndrome – Aortic Media Marfan Syndrome – Aortic Media
Autosomal Dominant Disorders Autosomal Dominant Disorders
Autosomal Dominant Disorders Autosomal Dominant Disorders
Neurofibromatosis – Type 1 Neurofibromatosis – Type 1
Autosomal Dominant Disorders Autosomal Dominant Disorders
Tuberous Sclerosis Tuberous Sclerosis
Tuberous Sclerosis Tuberous Sclerosis
Autosomal Dominant Disorders Autosomal Dominant Disorders
Autosomal Dominant Diseases Autosomal Dominant Diseases
Dentinogenesis Imperfecta Dentinogenesis Imperfecta
Modes of Inheritance of Monogenic Disorders Modes of Inheritance of Monogenic Disorders
Modes of Inheritance of Monogenic Disorders Modes of Inheritance of Monogenic Disorders
Autosomal Dominant vs. Autosomal Recessive Inheritance Autosomal Dominant vs. Autosomal Recessive Inheritance
Autosomal Recessive Pedigree Autosomal Recessive Pedigree
Autosomal Recessive Disorders Autosomal Recessive Disorders
Lysosomal Storage Diseases - Pathogenesis Lysosomal Storage Diseases - Pathogenesis
Autosomal Recessive Disorders Autosomal Recessive Disorders
Lysosomal storage diseases Lysosomal storage diseases
Lysosomal storage diseases Lysosomal storage diseases
Lysosomal storage diseases Lysosomal storage diseases
Lysosomal Storage Diseases Lysosomal Storage Diseases
Lysosomal Storage Diseases Lysosomal Storage Diseases
Lysosomal Storage Diseases Lysosomal Storage Diseases
Lysosomal Storage Diseases Lysosomal Storage Diseases
Autosomal Recessive Disorders Autosomal Recessive Disorders
Disorders of Carbohydrate Metabolism - Galactosemia Disorders of Carbohydrate Metabolism - Galactosemia
Mannosidosis - Deficiency of Mannosidase Mannosidosis - Deficiency of Mannosidase
Disorders of Amino Acid Metabolism Disorders of Amino Acid Metabolism
Disorders of Amino Acid Metabolism Disorders of Amino Acid Metabolism
Phenylketonuria Phenylketonuria
Disorders of Amino Acid Metabolism Disorders of Amino Acid Metabolism
Ochronosis - Femoral Head Ochronosis - Femoral Head
Disorders of Amino Acid Metabolism Disorders of Amino Acid Metabolism
Autosomal Recessive Disorders Autosomal Recessive Disorders
Autosomal Recessive Disorders Autosomal Recessive Disorders
Cystic Fibrosis Cystic Fibrosis
Cystic Fibrosis Cystic Fibrosis
Modes of Inheritance of Monogenic Disorders Modes of Inheritance of Monogenic Disorders
Modes of Inheritance of Monogenic Disorders Modes of Inheritance of Monogenic Disorders
X-linked Recessive Pedigree X-linked Recessive Pedigree
X-linked Recessive Disorders X-linked Recessive Disorders
X-linked Recessive Disorders X-linked Recessive Disorders
X-Linked Recessive X-Linked Recessive
Von Willebrand Disease Von Willebrand Disease
X-linked Recessive Disorders X-linked Recessive Disorders
X-Linked Hypohydrotic Ectodermal Dysplasia X-Linked Hypohydrotic Ectodermal Dysplasia
Modes of Inheritance of Monogenic Disorders Modes of Inheritance of Monogenic Disorders
Hypoplastic Amelogenesis Imperfecta Hypoplastic Amelogenesis Imperfecta
Modes of Inheritance of Monogenic Disorders - Single Gene Mendelian Disorders Modes of Inheritance of Monogenic Disorders - Single Gene Mendelian Disorders
Mitochondrial Inheritance Pedigree Mitochondrial Inheritance Pedigree
Non-Classical Inheritance Non-Classical Inheritance
Polygenic (Multifactorial) Inheritance Polygenic (Multifactorial) Inheritance
Polygenic (Multifactorial) Inheritance Polygenic (Multifactorial) Inheritance
Polygenic (Multifactorial) Traits – Polygenic (Multifactorial) Traits –
Causes of Fetal Abnormalities Causes of Fetal Abnormalities
Fetal Abnormalities Caused by External Agents (Teratogens) Fetal Abnormalities Caused by External Agents (Teratogens)
Cleft Palate Cleft Palate
Enamel Hypoplasia Due to Maternal Toxemia Enamel Hypoplasia Due to Maternal Toxemia
Fetal Abnormalities Caused by External Agents (Teratogens) Fetal Abnormalities Caused by External Agents (Teratogens)
Fetal or Congenital Abnormalities from Teratogens Fetal or Congenital Abnormalities from Teratogens
Methods of Prenatal Diagnosis Methods of Prenatal Diagnosis
Newborn Screening Tests Newborn Screening Tests