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September 1973

Isochromosome X: Clinical and Psychological Findings

Author Affiliations

From the departments of pediatrics (Drs. Senzer, Aceto, Cohen, Ehrhardt, and Abbassi), psychiatry (Dr. Ehrhardt), and obstetrics and gynecology (Dr. Capraro), School of Medicine, State University of New York, Buffalo.

Am J Dis Child. 1973;126(3):312-316. doi:10.1001/archpedi.1973.02110190274005

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.