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 44 - Patau Syndrome - Trisomy 13
from Genetic Syndromes and Phakomatoses
Published online by Cambridge University Press: 07 August 2021
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
Summary
Patau syndrome (PS) or trisomy 13 is a chromosomal disorder caused by the presence of an extra copy of chromosome 13 in some or all cells. The syndrome was first described and reported in 1960 by a German-born American geneticist Klaus Patau [1, 2]. It is the third most common autosomal trisomy. Fetal death occurs in 15% of clinically recognized pregnancies with trisomy 13. The prevalence of PS varies from 1:12,000 to 1:29,000 newborns [1, 3]. Pregnancies with trisomy 13 are usually terminated after the diagnosis is confirmed as fetuses are commonly born with multiple congenital malformations and postnatal survival is short [1, 3]. The syndrome is slightly more common in females, with a ratio to males of 1:0.88 [4]. Older maternal age is a recognized risk factor for this pathology due to the higher frequency of nondisjunction in meiosis leading to trisomy 13 compared to younger mothers [1].
- Type
- Chapter
- Information
- Perinatal Neuropathology , pp. 269 - 272Publisher: Cambridge University PressPrint publication year: 2021
References
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