Book contents
- Frontmatter
- Contents
- Foreword by John M. Opitz
- Preface
- Acknowledgments
- 1 The Human Embryo and Embryonic Growth Disorganization
- 2 Late Fetal Death, Stillbirth, and Neonatal Death
- 3 Fetal Autopsy
- 4 Ultrasound of Embryo and Fetus: General Principles
- 5 Abnormalities of Placenta
- 6 Chromosomal Abnormalities in the Embryo and Fetus
- 7 Terminology of Errors of Morphogenesis
- 8 Malformation Syndromes
- 9 Dysplasias
- 10 Disruptions and Amnion Rupture Sequence
- 11 Intrauterine Growth Retardation
- 12 Fetal Hydrops and Cystic Hygroma
- 13 Central Nervous System Defects
- 14 Craniofacial Defects
- 15 Skeletal Abnormalities
- 16 Cardiovascular System Defects
- 17 Respiratory System
- 18 Gastrointestinal Tract and Liver
- 19 Genito-Urinary System
- 20 Congenital Tumors
- 21 Fetal and Neonatal Skin Disorders
- 22 Intrauterine Infection
- 23 Multiple Gestations and Conjoined Twins
- 24 Metabolic Diseases
- Appendices
- Index
Appendices
Published online by Cambridge University Press: 23 February 2010
- Frontmatter
- Contents
- Foreword by John M. Opitz
- Preface
- Acknowledgments
- 1 The Human Embryo and Embryonic Growth Disorganization
- 2 Late Fetal Death, Stillbirth, and Neonatal Death
- 3 Fetal Autopsy
- 4 Ultrasound of Embryo and Fetus: General Principles
- 5 Abnormalities of Placenta
- 6 Chromosomal Abnormalities in the Embryo and Fetus
- 7 Terminology of Errors of Morphogenesis
- 8 Malformation Syndromes
- 9 Dysplasias
- 10 Disruptions and Amnion Rupture Sequence
- 11 Intrauterine Growth Retardation
- 12 Fetal Hydrops and Cystic Hygroma
- 13 Central Nervous System Defects
- 14 Craniofacial Defects
- 15 Skeletal Abnormalities
- 16 Cardiovascular System Defects
- 17 Respiratory System
- 18 Gastrointestinal Tract and Liver
- 19 Genito-Urinary System
- 20 Congenital Tumors
- 21 Fetal and Neonatal Skin Disorders
- 22 Intrauterine Infection
- 23 Multiple Gestations and Conjoined Twins
- 24 Metabolic Diseases
- Appendices
- Index
Summary
APPENDIX 1. CYTOGENETIC TERMINOLOGY
Aneuploid. An unbalanced state that arises through loss or addition of whole or pieces of chromosomes; always considered deleterious.
Chromosome. The location of hereditary (genetic) material within the cell. This hereditary material is packaged in the formof a very long, double-stranded molecule of DNA surrounded by and complexed with several different forms of protein. Genes are found arranged in a linear sequence along chromosomes, as is also a large amount of DNA of unknown function.
Confined placental mosaicism. A viable mutation in trophoblast or extraembryonic progenitor cells of the inner cell mass resulting in dichotomy between the chromosomal constitution of the placenta and the embryo or fetus.
Deletion. Pieces of chromosomes are missing in persons having 46 chromosomes.
Diploid (2n). The whole set of 46 chromosomes in a somatic cell.
Duplications. Extra pieces of chromosomes occur in individuals with 46 chromosomes.
Endomitosis. Duplication of the chromosomeswithout accompanying spindle formation or cytokinesis, resulting in a polyploid nucleus.
- Type
- Chapter
- Information
- Embryo and Fetal PathologyColor Atlas with Ultrasound Correlation, pp. 657 - 676Publisher: Cambridge University PressPrint publication year: 2004