Archive for the ‘Genetics’ Category


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


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

Androgen Insensitivity Syndrome 2011

Posted: January 5, 2011 in Genetics

Hm… I think it is also a good idea to put some of my works: papers, presentations, and others in my blog.

Here is my first presentation in my Master Program in Biomedics concentrating in Genetic Counseling. Yeah I recently assigned myself to take Master Program (thanks to Allah SWT a lot for the scholarship). I hope this thing can be a good enough start for a great year ahead. Wish me luck friends…

This presentation is about Androgen Insensitivity Syndrome, just like I mentioned in the title. I tried to change the way I made presentation for this title. As a medical student, I used to make a power point presentation started from Introduction, Diagnosis, Therapy, and so on.  However, this kinda form will not work if you want to be more schematic or explanatory related to pathophysiology or pathology. Therefore I changed it into a more pathology approach when I explained about Androgen Insensitivity Syndrome in this presentation.

It will be great if you have some opinions about this. (link provided below the picture)

Thank you very much.

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

Androgen Insensitivity Syndrome_widagdo_050111