Chromosomal differences
Every human cell contains 46 chromosomes (26 pairs), females have two X chromosomes and males have one X and one Y-chromosomes, which are sex chromosomes. The difference between a male or female with all their chromosomes and a male or female with Primordial Dwarfism is a mutation in the pericentrin gene (PCNT). The PCNT gene provides instructions for making proteins. This protein is located within the centromeres, which play a role in cell division and the assembly of chromosomes. The mutation of the PCNT gene result in abnormally short pericentrin protein that does not function, and brings the other proteins to the centrosome. This causes the centrosome to not properly align causing disruption in the cell cycle and cell division. Disruption in the cell causes cells to die and less cell production means shorter bones and characteristics of primordial dwarfism (GHR, 2011).