
Monosomy X (Turner Syndrome) (2n = 44,XO)
Monosomy X (AKA Turner Syndrome) is a
karyotypic
condition caused by non-disjunction of X
chromosomes at Meiosis I
or II. It occurs in
about 1/2000 live
female births: a large proportion of monosomic X
fetuses are aborted spontaneously in the first trimester.
The second X is
completely absent in about 50%
of cases, partially deleted in about 30%,
and instances of tissue mosaicism (mixtures of XO and XX cells) are also
known.
The most obvious indications are
very short stature (4'8" = 141cm in untreated adults,
correctable
with hormone replacement), webbing at
the
neck (not always present), characteristic
facial features
(compare the drawing and the girl in the first photo, but
highly
variable as in the remainder of the gallery), and a variety
of
secondary
medical conditions. Girls with Turner Syndrome typically do
not experience puberty without estrogen therapy, and there
is a
trade-off between height gain and early induction of sexual
maturity.
Ovaries are typically
undeveloped and ova rare, but some cases of succesful
reproduction are
reported.
Contrary to state,emts in some textbooks,
the range of
intellectual
development
is normal, though there seem to be difficulties with
specific skill
sets, particularly math. The
principal difficulty is acceptance by the peer group. Most
women with Turner Syndrome
lead typical lives, including normal family relationships.
For further
information, see [http://www.tss.org.uk]
and [http://www.turner-syndrome-us.org].
Figure ©2002
by Griffiths et al.; all text
material
©2011 by Steven M. Carr