Clinical features: Patau syndrome (trisomy 13) is more severe than Down syndrome. Most fetuses are miscarried before term or the baby is stillborn. The birth weight is low and the diagnosis can usually be made by the characteristic clinical features but confirmed by chromosome analysis. Congenital anomalies of the heart, brain, eyes, scalp, lips and palate and are frequent in liveborn babies with Patau syndrome, 50% die within a month of birth. Only 10% of children with Patau syndrome survive beyond one year. They experience profound learning disabilities and usually multiple congenital anomalies.
Chromosome result: Trisomy 13 in 75% of cases, translocation in 20%, mosaicism in 5%.
Recurrence risk: For parents of a child with trisomy 13 the risk of recurrence for trisomy 13 or for the other major chromosomal abnormalities is one per cent. If one parent is a carrier of a balanced translocation, the risks are higher.
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