Guide for Genetic Consultation

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.