Linked e-resources
Details
Table of 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.
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.