Question

Which autosomal trisomy is characterized by 'rocker-bottom' feet and overlapping fingers?

Options

• Down's Syndrome (Trisomy 21)

• Tetrasomy (2n + 2)

• Edwards Syndrome (Trisomy 18)

• Patau Syndrome (Trisomy 13)

Answer 1

Edwards Syndrome, or Trisomy 18 (karyotype 47, +18), is characterized by distinctive 'rocker-bottom' feet and overlapping fingers with clenched fists. It has very high neonatal mortality with most affected individuals surviving less than one year. Other features include severe intellectual disability and multiple organ defects.