Case Presentation on Robertsonian Translocation

Robertsonian translocation is easily defined as a translocation between two acrocentric chromosome. Therefore when someone carries balance robertsonian tranlocation, their karyotipe result is changed into 45,XX/XY, since balance translocation on satellite of both chromosomes involved are considered missing. Here is my group presentation on a case of a patient with Robertsonian translocation, focusing on what a genetic counselor should know (well, I honestly think it is also important for a general practitioner to know, since the understanding upon this matter is pretty simple).

Case Presentation final

Ataxia… focus on inherrited ataxia

Here is my group presentation on Ataxia, as an assignment from a brilliant Neurologist, dr. Dani, SpS. I think it is a concise ppt on inherrited ataxia, yet also put a pretty good point of view on seeing inherrited ataxia as a genetic disease.

You could click this link below for the pptx.

ATAXIA