Klinefelter syndrome
Background
Klinefelter syndrome: XXY syndrome (sometimes includes XXXY and, until recently, XXXXY)
Klinefelter syndrome was first described in a paper of 1942 by Dr Harry Klinefelter and colleagues. It occurs only in males and is due to a chromosomal abnormality. A chromosome is a rod-like structure present in the nucleus of all body cells, with the exception of the red blood cells, and which stores genetic information. Normally humans have twenty-three pairs of chromosomes, the unfertilised ova and each sperm carrying a set of twenty-three chromosomes. On fertilisation the chromosomes combine to give a total of forty-six (twenty-three pairs). A normal female has an XX pair and a normal male an XY pair.