human karyotyping

Question

as an human geneticist how can one describe the unusual state in a human karyotype where an enlargement was seen in the short arm of a short chromosome that is metacentric where the portion is on 4th region and on band number 5. how can it be described using descriptive address

Answer 1

Hello Odebiyi,

You would indicate a duplication by "dup".

You would add the arm name --> p here. so dup (p)

You now add the region separated by a . from the band. ---> dup (p4.5)

Should you wnt to add the chromosome number, you would add this first.

For the human chromosomes, it would be one of those that are metacentric: 1, 3, 16, 19, and 20

--> dup (1) (p4.5)

Hope that this helps!