PMC10213385_01
Multiple cafe-au-lait spots on the forearm.
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She had multiple cafe-au-lait macules with dimensions ranging from 5 to 25 mm distributed over her arms, thighs and backs (Figure 1), multiple lentigines over her face (Figure 2) and axillary freckling.
The face of the patient showing multiple lentigines and low set ears.
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She had multiple cafe-au-lait macules with dimensions ranging from 5 to 25 mm distributed over her arms, thighs and backs (Figure 1), multiple lentigines over her face (Figure 2) and axillary freckling.
Cubitus valgus.
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She had cubitus valgus (Figure 3) and short fourth metacarpals.
Karyotype 45,X[27]/46, X,i(X)(q10)[03].
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Karyotype of peripheral blood cells revealed mosaic TS with isochromosome Xq - 45, X [27]/46,X,i(X)(q10)[03] (Figure 4).