Genetics (Karyotyping Activity)

Question

Patient C died shortly after birth, with a multitude of anomalies, including polydactyly and a cleft lip. Chromosomes were obtained from a tissue sample.

What are the diagnosis?

What are the notations?

Patient C, has 47 chromosome (explain the pairing) this means that the Patient C has an estimated 22 pairs of chromosome with 1 extra chromosome...

Thank you so much!!

Answer 1

Trisomy 13, also called Patau syndrome.

The extra chromosome i what makes it 47 though we should have an even split of 23 /23 in a diploid cell.