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Turner syndrome is a genetic condition that only affects females. This condition occurs in about 1 in 2,500 newborn girls worldwide, but it is much more common among pregnancies that do not survive to term (miscarriages and still births) [1].  Approximately, half have monosomy X (45,X) and 5–10 % have duplication (isochromosome) of the long arm of X (46,X,i(Xq)). Most of the rest have mosaicism for 45,X, with one or more additional cell lineages.  TS was named after Dr. Henry Turner, who discovered the condition in 1938. The condition can cause a range of disabilities which can be—physical, emotional, and educational. TS occurs when one of the two chromosomes that are found in females is completely or partially missing [1].  Chromosomes are strands of DNA that are found in all of the cells in the human body. They contain instructions that determine a person’s physical and behavioral characteristics [1].  Case of TS where an X chromosome is completely missing are sometimes referred to as “Classical” Turner syndrome, “Mosaic” Turner syndrome is where abnormalities only occur in the X chromosome of some of the body’s cells. In such cases, there may be a few or no symptoms [1].  The 45,X/46,XX chromosomal pattern is the most frequent mosaic type of this disease (36 %) [2].  Mosaic TS is not inherited. It occurs as a random event during cell division in early fetal development. As a result, a few of the affected person’s cells have the usual 2 sex chromosome (either 2X chromosomes or 1X chromosome and 1Y chromosome).

Rare Presentation of Mosaic Form (45X/46XX) of Tuner’s Syndrome