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certain physical features of Turner syndrome, which may
include
short stature ,
"webbing" of the skin of the neck (extra folds of skin
extending from the tops of the shoulders to the sides of
the neck),
a low hairline at the back of the head ,
low-set ears ,
abnormal eye features, including drooping of the eyelids
abnormal bone development, especially the bones of the
hands and elbows ,
a lack of breast development at the expected age (usually
by age 13) ,
an absence of menstruation (amenorrhea) ,
a larger than usual number of moles on the skin ,
People who have Turner syndrome may vary widely in their
characteristics or symptoms of the disorder. Some may have
many features or symptoms, whereas others may experience
only a few.
A special blood test that looks at a person's chromosomes -
called a karyotype - is used to diagnose Turner syndrome.
Several physical characteristics may be noted at birth,
which can alert your child's doctor to the possibility of
TS and cause him or her to order a karyotype. A karyotype
test that indicates Turner syndrome reveals 45 chromosomes
(only one X chromosome), instead of the normal 44 autosomes
and 2 X chromosomes (XX) typically found in females. In
some girls with TS, two X chromosomes are present, but one
is misshapen or missing a piece.
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