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by clicking on the tabs at the top of this page. Turner syndrome
or Ullrich-Turner syndrome (also known as "Gonadal
dysgenesis":550) encompasses several conditions in human
females, of which monosomy X (absence of an entire sex
chromosome, the Barr body) is most common. It is a chromosomal
abnormality in which all or part of one of the sex chromosomes
is absent (unaffected humans have 46 chromosomes, of which two
are sex chromosomes). Normal females have two X chromosomes, but
in Turner syndrome, one of those sex chromosomes is missing or
has other abnormalities. In some cases, the chromosome is
missing in some cells but not others, a condition referred to as
mosaicism or 'Turner mosaicism'. Occurring in 1 in 2000 – 1 in
5000 phenotypic females, the syndrome manifests itself in a
number of ways. There are characteristic physical abnormalities,
such as short stature, swelling, broad ches