The purpose of this booklet is to examine one of the common genetic disorders associated with short stature. In 1938, Dr. Henry Turner recognized a pattern of short stature and incomplete sexual maturation in otherwise normal females. The common name for this condition is Turner syndrome, after Dr. Turner. A syndrome is a set of features often found in association with each other and believed to stem from the same cause. Turner syndrome is a genetic disorder that results from an abnormality of a chromosome.
Chromosomes are thin strands of material found in the nucleus of each cell.
They contain the genes that determine each person's characteristics. A female ordinarily has 2 X chromosomes, while a male has one X and one Y chromosome. In Turner syndrome, one of the X chromosomes is missing or misshapen in most of the cells in the body. The reason for this total or partial loss of the chromosome usually cannot be found, but the loss occurs soon after the baby is conceived. Physical Features Because only one X chromosome is present, the ovaries do not develop normally and usually do not function fully.