Trisomy 13 (Patau Syndrome)

  • Least common and most severe of the viable autosomal trisomies
  • Risk of Recurrence: < 1%, higher with increased maternal age.

Clinical Presentation

  • Cleft lip
  • Cleft palate
  • Polydactyly (postaxial)
  • Microcephaly
  • Microphthalmia
  • Scalp defects (cutis aplasia)
  • Omphalocele
  • Hernias
  • Neural tube defects
  • Cardiac defects occur in 80% of cases, e.g., Patent ductus arteriosus (PDA) or VSD
  • Genital anomalies

Prognosis

  • Median survival is only 2.5 days; 82% die within 1 month, and 95% die within 6 months.