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 41 - Fragile X Syndrome
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
Fragile X syndrome (FXS) is a genetic condition associated with CGG trinucleotide repeats in the fragile X mental retardation 1 gene (FMR1) on the X chromosome, which is a prevalent cause of inherited intellectual disability in both males and females. In the general population, the CGG trinucleotide repeats range from 5 to 40 CGG. The full mutation of the FMR1 gene leads to a complete deficit of FMR1 protein (FMRP). The prevalence of full mutation in males is 1 in 4,000 to 1 in 7,000, while in females it is 30–60% lower. The premutation (an expansion of 55 to 200 CGG repeats) is often asymptomatic, but it can also be associated with fragile X-associated primary ovarian insufficiency (FXPOI), anxiety, depression, and medical problems, including hypertension, hypothyroidism, immune-mediated problems, and the fragile X-associated tremor ataxia syndrome (FXTAS).
- Type
- Chapter
- Information
- Perinatal Neuropathology , pp. 255 - 259Publisher: Cambridge University PressPrint publication year: 2021
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