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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.

What are the symptoms? View What are the symptoms?

Medical text written November 1991 by Contact a Family. Approved by Professor M Patton, Professor of Medical Genetics, St Georges Hospital Medical School, London, UK and Dr J E Wraith, Consultant Paediatrician, Royal Manchester Children's Hospital, Manchester, UK. Last updated September 2005 by Dr R Stanhope, Consultant Paediatric Endocrinologist, Great Ormond Street Hospital, London, UK.

 

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