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 42 - Down Syndrome - Trisomy 21
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
Down syndrome (DS) or trisomy 21 is a chromosomal disorder caused by the presence of an extra copy of chromosome 21 in some or all cells. This condition belongs to aneuploidies and manifests with intellectual disability, typical facial appearance, and multiple comorbid pathologies. The syndrome was fully described in 1866 by a British physician, John Langdon Down, while the genetic cause, i.e., trisomy 21, was discovered in 1959 [1]. Trisomy 21 is the most common chromosomal anomaly in humans, caused by nondisjunction of chromosome 21 in a parent who is chromosomally normal. The incidence of DS is 1 in 690–750 births, and the risk of DS occurrence increases with the parental age (reaching 1 in 270 for women age 35–39) [1, 2, 3]. However, the probability of having a second child with DS is greater for a young female carrying a balanced translocation than for a healthy middle-aged woman [1].
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- Perinatal Neuropathology , pp. 260 - 264Publisher: Cambridge University PressPrint publication year: 2021
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