Book contents
- Perinatal Neuropathology
- Perinatal Neuropathology
- Copyright page
- Contents
- Preface
- Acknowledgments
- Abbreviations
- Section I Techniques and Practical Considerations
- Section 2 Human Nervous System Development
- Section 3 Stillbirth
- Section 4 Disruptions / Hypoxic-Ischemic Injury
- Section 5 Malformations
- Neural Tube Defects and Patterning Defects
- Hydrocephalus
- Neuronal Migration Disorders
- Genetic Syndromes and Phakomatoses
- Chapter 41 Fragile X Syndrome
- Chapter 42 Down Syndrome - Trisomy 21
- Chapter 43 Edwards Syndrome - Trisomy 18
- Chapter 44 Patau Syndrome - Trisomy 13
- Chapter 45 Tuberous Sclerosis Complex
- Chapter 46 Sturge-Weber Syndrome
- Chapter 47 Neurocutaneous Melanosis
- Section 6 Perinatal Neurooncology
- Section 7 Spinal and Neuromuscular Disorders
- Section 8 Eye Disorders
- Section 9 Infections: In Utero Infections
- Section 10 Metabolic / Toxic Disorders: Storage Diseases
- Section 11 Forensic Neuropathology
- Appendix 1 Technical Considerations in Perinatal CNS
- Index
- References
Chapter 43 - Edwards Syndrome - Trisomy 18
from Genetic Syndromes and Phakomatoses
Published online by Cambridge University Press: 07 August 2021
- Perinatal Neuropathology
- Perinatal Neuropathology
- Copyright page
- Contents
- Preface
- Acknowledgments
- Abbreviations
- Section I Techniques and Practical Considerations
- Section 2 Human Nervous System Development
- Section 3 Stillbirth
- Section 4 Disruptions / Hypoxic-Ischemic Injury
- Section 5 Malformations
- Neural Tube Defects and Patterning Defects
- Hydrocephalus
- Neuronal Migration Disorders
- Genetic Syndromes and Phakomatoses
- Chapter 41 Fragile X Syndrome
- Chapter 42 Down Syndrome - Trisomy 21
- Chapter 43 Edwards Syndrome - Trisomy 18
- Chapter 44 Patau Syndrome - Trisomy 13
- Chapter 45 Tuberous Sclerosis Complex
- Chapter 46 Sturge-Weber Syndrome
- Chapter 47 Neurocutaneous Melanosis
- Section 6 Perinatal Neurooncology
- Section 7 Spinal and Neuromuscular Disorders
- Section 8 Eye Disorders
- Section 9 Infections: In Utero Infections
- Section 10 Metabolic / Toxic Disorders: Storage Diseases
- Section 11 Forensic Neuropathology
- Appendix 1 Technical Considerations in Perinatal CNS
- Index
- References
Summary
Edwards syndrome (ES) or trisomy 18 is a chromosomal disorder caused by the presence of an extra copy of chromosome 18 in some or all body cells. The syndrome was first recognized and described in 1960 by a British physician, John H. Edwards, professor of genetics at Birmingham and Oxford [1]. Although a rare disease, ES is the second most common chromosomal aberration after Down syndrome. Trisomy 18 is associated with multiple malformations, which are often incompatible with life, combined with psychomotor and cognitive disability. The prevalence of trisomy 18 varies between 1 in 3,000 to 1 in 8,000 live births. Due to the higher frequency of male fetuses’ loss and better survival of females with ES, the male to female ratio is 1:3. The risk of developing ES increases with the maternal age [2, 3, 4].
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- Perinatal Neuropathology , pp. 265 - 268Publisher: Cambridge University PressPrint publication year: 2021