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A thirty seven year-old Caucasian female presented with short stature and primary amenorrhea. Employing multiple banding techniques, an isochromosome of the long arm of the X chromosome [i(Xq)] was identified in her peripheral blood and skin fibroblast cultures. This chromosomal abnormality can be interpreted as 46,X,i(X)(qter leads to cen leads to qter). The i(Xq) is late replicating and selectively inactive. The present case was found to have minimal abnormal features when compared with previously published cases. Since patients with i(Xq) have quite variable clinical features, the existence of a distinct clinical entity of "X-isochromosome syndrome" is questioned.
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