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Neuropsychological and functional cognitive skills of 35 unselected adults with sex chromosome abnormalities

Authors

  • Bruce G. Bender,

    Corresponding author
    1. Department of Pediatrics, National Jewish Medical and Research Center, Denver, Colorado
    2. Department of Psychiatry, University of Colorado School of Medicine, Denver, Colorado
    • National Jewish Medical and Research Center, 1400 Jackson Street, Denver, CO 80206.
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  • Mary G. Linden,

    1. Department of Pediatrics, National Jewish Medical and Research Center, Denver, Colorado
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  • Robert J. Harmon

    1. Department of Psychiatry, University of Colorado School of Medicine, Denver, Colorado
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  • This article is dedicated to the memory of Dr. Arthur Robinson, who passed away on February 16, 2000 at the age of 86. Dr. Robinson was a dedicated physician, teacher, and researcher, and was a leader in the field of genetics. His insight, humor, and kindness are fondly remembered by his patients, and by the long list of medical students, geneticists, genetic counselors, and researchers he trained.

Abstract

This report presents data defining the neuropsychological and cognitive phenotypes of a group of adults with sex chromosome abnormalities identified at birth through the chromosome screening of 40,000 consecutive newborns between 1964 and 1974. In all three nonmosaic groups, reading skills were impaired and intelligence quotients were on average reduced more than 20 points relative to controls. The 47,XXX women demonstrated greatest overall impairment, including reduced scores on tests of conceptualization and problem solving. 45,X women demonstrated impairment in spatial thinking skills, and 47,XXY men in verbal processing skills. No reduced scores were found in the female mosaic group. Marked variability in scores was seen in all groups; some propositi have been unable to hold any job, whereas others have completed college and are professionally employed. © 2001 Wiley-Liss, Inc.

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