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Sex chromosome aberrations and stature: deduction of the principal factors involved in the determination of adult height

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Abstract

Although sex chromosome aberrations are frequently associated with statural changes, the underlying factors have not been clarified. To define the factors leading to the statural changes, we took the following three steps: (1) determination of the mean adult height in non-mosaic Caucasian patients with sex chromosome aberrations reported in the literature (assessment of genetic height potential); (2) assessment of the validity of factors that could influence stature; and (3) correlation of the mean adult height with the effects of specific growth-related factors. The results indicate that the adult height in patients with sex chromosome aberrations may primarily be defined by the dosage effect of pseudoautosomal and Y-specific growth genes, together with the degree of growth disadvantage caused by alteration of the quantity of euchromatic or non-inactivated region.

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  1. Tsutomu Ogata

    Present address: Department of Pediatrics, Keio University School of Medicine, 35 Shinanomachi, Shinjuku-ku, 160, Tokyo, Japan

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  1. Human Molecular Genetics Laboratory, Imperial Cancer Research Fund, Lincoln's Inn Fields, P.O. Box 123, WC2A 3PX, London, UK

    Tsutomu Ogata

  2. Department of Pediatrics, Keio University School of Medicine, 35 Shinanomachi, Shinjuku-ku, 160, Tokyo, Japan

    Nobutake Matsuo

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Ogata, T., Matsuo, N. Sex chromosome aberrations and stature: deduction of the principal factors involved in the determination of adult height. Hum Genet 91, 551–562 (1993). https://doi.org/10.1007/BF00205079

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