BookBirgit Zirn, Karl Mehnert, eds.
Summary: 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. .
Contents:
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.