Chromosome and Gene Abnormalities

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• Overview of Chromosomal Abnormalities
  • Terminology
  • Diagnosis
    • Screening
    • Screening reference

• Down Syndrome (Trisomy 21)
  • References
  • Etiology
    • Etiology references
  • Pathophysiology
    • Pathophysiology references
  • Symptoms and Signs
    • General appearance
    • Growth and development
    • Cardiac manifestations
    • Gastrointestinal manifestations
  • Diagnosis
    • Concomitant medical conditions
    • Diagnosis references
  • Treatment
  • Key Points
  • More Information

• Trisomy 18
  • General references
  • Symptoms and Signs
  • Diagnosis
    • Diagnosis reference
  • Treatment
    • Screening for complications of trisomy 18
    • Treatment reference
  • Prognosis
    • Prognosis references
  • More Information

• Trisomy 13
  • General reference
  • Diagnosis
    • Diagnosis reference
  • Treatment
  • Prognosis
    • Prognosis reference
  • More Information

• Chromosomal Deletion Syndromes
  • 5p- syndrome (5p minus syndrome or cri-du-chat syndrome)
  • 4p- syndrome (4p minus syndrome or Wolf-Hirschhorn syndrome)
  • Subtelomeric deletions

• Microdeletion and Microduplication Syndromes

• Overview of Sex Chromosome Abnormalities
  • Lyon hypothesis (X-inactivation)
  • Reference

• Turner Syndrome
  • General references
  • Pathophysiology
  • Symptoms and Signs
    • Symptoms and signs references
  • Diagnosis
    • Concomitant medical conditions
    • Diagnosis reference
  • Treatment
    • Treatment reference
  • Key Points

• Klinefelter Syndrome (47,XXY)
  • Reference
  • Diagnosis
  • Treatment

• 47,XYY Syndrome

• Other X Chromosome Abnormalities
  • Reference

• Fragile X Syndrome
  • Reference
  • Symptoms and Signs
  • Diagnosis
  • Treatment
  • More Information