One of a Kind

5q14.3 DELETION SYNDROME  A deletion is a type of anomaly or chromosomal disorder characterized by the total or partial loss of a segment of the chromosome. This genetic alteration is related with a variety of consequences since each chromosome carries an important range of genes, each one of them responsible for transmitting essential information for the development and the growth of the individual. Faced with the diagnosis of a rare chromosomal disorder, the limitation or even lack of available information about the condition is evident. There are so many different types of chromosomal alterations that it is unlikely that there will be a considerable number of people with exactly the same result. Since the group of people diagnosed is restricted, it is difficult to predict how the chromosome disorder will affect their health. Defects in chromosomes, from 1 to 22 are known to be usually more severe than those in the X and Y sex chromosomes, such as in Tu...