Supported by figures, tables and photos, this book illustrates the basics of genetic diagnostics, prenatal and reproductive medicine, syndromology and familial cancers. It also includes numerous illustrated examples of the most frequent genetic diseases, making it a valuable resource in genetic counselling. This book is an essential tool for genetic counsellors, paediatricians, gynaecologists and all healthcare professionals who explain genetic issues to their patients. Useful also for teaching students.
Supported by figures, tables and photos, this book illustrates the basics of genetic diagnostics, prenatal and reproductive medicine, syndromology and familial cancers. It also includes numerous illustrated examples of the most frequent genetic diseases, making it a valuable resource in genetic counselling.
This book is an essential tool for genetic counsellors, paediatricians, gynaecologists and all healthcare professionals who explain genetic issues to their patients. Useful also for teaching students.
Prof. Dr. Dr. Birgit Zirn is medical specialist for human genetics and leader of the Genetikum in Stuttgart. After studying medicine, biology and musicology she completed her clinical and academic education in human genetics and paediatrics with a focus on sydromology. Birgit Zirn developed the pictures and figures in the manual in the framework of lectures and presentations. Dr. Karl Mehnert is founder and the leading physician at the Genetikum, which has several locations in southern Germany. After studying medicine and qualifying at the Department of Clinical Genetics at The University of Ulm, in 1990 he established a medical and human genetics practice in Neu-Ulm. Karl Mehnert brought in his 25 years of experience in genetic counselling to the manual.
Inhaltsangabe
Part I Basics: Chromosomes, genes, proteins.- chromosome analysis.- FISH.- Array CGH.- Gene Analysis.- Sequencing: Sanger and NGS.- Part II Cytogenetics: Female Chromosome Set (46, XX).- Male Chromosome Set (46, XY).- Germ Cell Formation, Fertilization, Non-Disjunction.- Trisomy 21 (Down syndrome).- Trisomy 13/18.- Klinefelter Syndrome.- Turner Syndrome.- Triple X Syndrome.- Triploidy.- Reciprocal Translocation.- Robertson Translocation.- Part III Prenatal Diagnosis: Basis Risk.- Maternal Age Risk.- Chorionic Villus Sampling (CVS).- Amniocentesis (AC).- Non-Invasive Prenatal Test (NIPT).- Chromosome Disorders: Pregnancy And Childbirth .- Part IV Heredities: Autosomal Dominant Inheritance.- Autosomal Recessive Inheritance.- X-Linked Inheritance.- Mitochondrial Inheritance.- Germ Cell Mosaic.- Part V Fertility: Repeated Miscarriages.- Pregnancy: Ovulation To Implantation.- IVF and ICSI.- Polar Body And Pre-Implantation Diagnostics.- Relatives.- Part Vi Cancers: How Does Cancer Develop?.- Colon Cancer.- Breast And Ovarian Cancer.- Part VII Frequent Questions: Developmental Disorder.- Fragile X Syndrome.- Prader-Willi Syndrome 40 Angelman Syndrome.- Noonan Syndrome.- Microdeletion Syndrome 22q11.- Neuroflbromatose.- Marfan Syndrome 45 Cystic Fibrosis.- Metabolic Disorders.- Myotonic Dystrophy Type 1.- Huntington's Chorus.- Hemophilia.- Thrombophilia.
Part I Basics: Chromosomes, genes, proteins.- chromosome analysis.- FISH.- Array CGH.- Gene Analysis.- Sequencing: Sanger and NGS.- Part II Cytogenetics: Female Chromosome Set (46, XX).- Male Chromosome Set (46, XY).- Germ Cell Formation, Fertilization, Non-Disjunction.- Trisomy 21 (Down syndrome).- Trisomy 13/18.- Klinefelter Syndrome.- Turner Syndrome.- Triple X Syndrome.- Triploidy.- Reciprocal Translocation.- Robertson Translocation.- Part III Prenatal Diagnosis: Basis Risk.- Maternal Age Risk.- Chorionic Villus Sampling (CVS).- Amniocentesis (AC).- Non-Invasive Prenatal Test (NIPT).- Chromosome Disorders: Pregnancy And Childbirth .- Part IV Heredities: Autosomal Dominant Inheritance.- Autosomal Recessive Inheritance.- X-Linked Inheritance.- Mitochondrial Inheritance.- Germ Cell Mosaic.- Part V Fertility: Repeated Miscarriages.- Pregnancy: Ovulation To Implantation.- IVF and ICSI.- Polar Body And Pre-Implantation Diagnostics.- Relatives.- Part Vi Cancers: How Does Cancer Develop?.- Colon Cancer.- Breast And Ovarian Cancer.- Part VII Frequent Questions: Developmental Disorder.- Fragile X Syndrome.- Prader-Willi Syndrome 40 Angelman Syndrome.- Noonan Syndrome.- Microdeletion Syndrome 22q11.- Neuroflbromatose.- Marfan Syndrome 45 Cystic Fibrosis.- Metabolic Disorders.- Myotonic Dystrophy Type 1.- Huntington's Chorus.- Hemophilia.- Thrombophilia.
Part I Basics: Chromosomes, genes, proteins.- chromosome analysis.- FISH.- Array CGH.- Gene Analysis.- Sequencing: Sanger and NGS.- Part II Cytogenetics: Female Chromosome Set (46, XX).- Male Chromosome Set (46, XY).- Germ Cell Formation, Fertilization, Non-Disjunction.- Trisomy 21 (Down syndrome).- Trisomy 13/18.- Klinefelter Syndrome.- Turner Syndrome.- Triple X Syndrome.- Triploidy.- Reciprocal Translocation.- Robertson Translocation.- Part III Prenatal Diagnosis: Basis Risk.- Maternal Age Risk.- Chorionic Villus Sampling (CVS).- Amniocentesis (AC).- Non-Invasive Prenatal Test (NIPT).- Chromosome Disorders: Pregnancy And Childbirth .- Part IV Heredities: Autosomal Dominant Inheritance.- Autosomal Recessive Inheritance.- X-Linked Inheritance.- Mitochondrial Inheritance.- Germ Cell Mosaic.- Part V Fertility: Repeated Miscarriages.- Pregnancy: Ovulation To Implantation.- IVF and ICSI.- Polar Body And Pre-Implantation Diagnostics.- Relatives.- Part Vi Cancers: How Does Cancer Develop?.- Colon Cancer.- Breast And Ovarian Cancer.- Part VII Frequent Questions: Developmental Disorder.- Fragile X Syndrome.- Prader-Willi Syndrome 40 Angelman Syndrome.- Noonan Syndrome.- Microdeletion Syndrome 22q11.- Neuroflbromatose.- Marfan Syndrome 45 Cystic Fibrosis.- Metabolic Disorders.- Myotonic Dystrophy Type 1.- Huntington's Chorus.- Hemophilia.- Thrombophilia.
Part I Basics: Chromosomes, genes, proteins.- chromosome analysis.- FISH.- Array CGH.- Gene Analysis.- Sequencing: Sanger and NGS.- Part II Cytogenetics: Female Chromosome Set (46, XX).- Male Chromosome Set (46, XY).- Germ Cell Formation, Fertilization, Non-Disjunction.- Trisomy 21 (Down syndrome).- Trisomy 13/18.- Klinefelter Syndrome.- Turner Syndrome.- Triple X Syndrome.- Triploidy.- Reciprocal Translocation.- Robertson Translocation.- Part III Prenatal Diagnosis: Basis Risk.- Maternal Age Risk.- Chorionic Villus Sampling (CVS).- Amniocentesis (AC).- Non-Invasive Prenatal Test (NIPT).- Chromosome Disorders: Pregnancy And Childbirth .- Part IV Heredities: Autosomal Dominant Inheritance.- Autosomal Recessive Inheritance.- X-Linked Inheritance.- Mitochondrial Inheritance.- Germ Cell Mosaic.- Part V Fertility: Repeated Miscarriages.- Pregnancy: Ovulation To Implantation.- IVF and ICSI.- Polar Body And Pre-Implantation Diagnostics.- Relatives.- Part Vi Cancers: How Does Cancer Develop?.- Colon Cancer.- Breast And Ovarian Cancer.- Part VII Frequent Questions: Developmental Disorder.- Fragile X Syndrome.- Prader-Willi Syndrome 40 Angelman Syndrome.- Noonan Syndrome.- Microdeletion Syndrome 22q11.- Neuroflbromatose.- Marfan Syndrome 45 Cystic Fibrosis.- Metabolic Disorders.- Myotonic Dystrophy Type 1.- Huntington's Chorus.- Hemophilia.- Thrombophilia.
Rezensionen
"This is not a book to just read, it is a tool with exquisitely selected artwork that can be used by genetics counselors, clinical geneticists, and professors in the field of genetics, as well as by secondary, undergraduate, and graduate students. This is a must-have book." (Luis F Escobar, Doody's Book Reviews, November 08, 2019)
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