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.