We describe six girls with 46, XX qi karyo-type. The clinical and psychological characteristics are similar to those of girls and women with XO or XX/XO karyotype. Features that are commonly present include short stature, overweight, scant secondary sexual characteristics, sterility, strabismus, nevi, cubitus valgus, minor urinary tract anomalies, normal intelligence, space-form difficulties, deficit in visual-motor coordination, and exclusively feminine behavior. These patients can have coarctation of the aorta, and they may not be as well-adjusted as girls and women with XO or XX/XO karyotype.
Senzer N, Aceto T, Cohen MM, Ehrhardt AA, Abbassi V, Capraro VJ. Isochromosome X: Clinical and Psychological Findings. Am J Dis Child. 1973;126(3):312–316. doi:10.1001/archpedi.1973.02110190274005
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