Turner syndrome

 

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A female with Turner syndrome (45,X).  Note the characteristically broad, "webbed" neck.  Stature is reduced, and swelling (edema) is seen in the ankles and wrists.

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This is monosomy X (Turner's syndrome, with karyotype 45, X). It is uncommon for fetuses with monosomy X to survive. However, women with Turner's syndrome can live relatively normal lives, though they are unable to bear children.

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The "streak ovaries" of Turner's syndrome are shown here. Bilaterally below the fallopian tubes at the top of the photograph are long thin bands of tan ovarian tissue in this 55 year old female. No ova were ever present.

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A feature of many chromosomal abnormalities is fetal hydrops (hydrops fetalis) in which the soft tissues are markedly edematous and body cavities filled with effusions. This is particularly true of monosomy X. The fetus shown here died in utero (intrauterine fetal demise) and shows signs of maceration (autolysis) such as the slippage of the skin and the reddened color.

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One very characteristic feature of a fetus with monosomy X is the "cystic hygroma" of the neck. This is not a true neoplasm, but represents failure of lymphatics to form and drain properly. It is this structure that eventually forms the "web neck" feature of women with Turner's syndrome. Note the grey coloration from prolonged intrauterine demise.

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This is marked fetal hydrops along with a bilateral cystic hygroma in a macerated fetus with monosomy X. Sometimes, Down syndrome can produce marked hydrops as well.

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The bilateral cystic hygromas in this fetus with Turner's syndrome are prominent.

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Microscopically, the cystic hygroma consists of irregularly dilated lymphatic spaces in the soft tissue of the neck.

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