EDP 3361 Lecture Notes - Lecture 3: Down Syndrome, Angle, Trisomy
Document Summary
Most common chromosomal condition diagnosed in the united states. Mongolism (looked like they were of asian desent} they all looked physically like they could have been related first to characterised people with down syndrome into a group. Found the reason for the issue (genetic} Epicanthic skin folds on corner of eyes. Brushfield spots {white dots around the iris} Each cell in the body has 3 separate copies of chromosome 21 instead of typical 2. Most common like ninty : translocation. An extra part or whole extra chromosome. 21 is present, but is attached or trans- located to a different chromosome, 2% of individuals mixture/combination attaches itself to the 14 chromosome copies: mosaic (mosaicism) Some cells have 3 copies of chromosome 21, but other cells have typical 2. Features vary depending on incidence of cells with trisomy 21. Screening tests - estimation, not always accurate. Sonogram {they can see fingers and if you have a nasal bone}