Question

What is the karyotype of Patau Syndrome?

Options

• 47, +13

• 47, +21

• 47, +18

• 47, XXY

Answer 1

Patau Syndrome is trisomy 13, represented by the karyotype 47, +13, indicating 47 chromosomes with an extra chromosome 13. It occurs with an incidence of 1 in 5,000 live births and is characterized by severe intellectual disability, congenital heart defects, polydactyly, cleft palate and lip, and ocular abnormalities.