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Turner syndrome and female sex chromosome aberrations: deduction of the principal factors involved in the development of clinical features

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Abstract

Although clinical features in Turner syndrome have been well defined, underlying genetic factors have not been clarified. To deduce the factors leading to the development of clinical features, we took the following four steps: (1) assessment of clinical features in classic 45,X Turner syndrome; (2) review of clinical features in various female sex chromosome aberrations (karyotype-phenotype correlations); (3) assessment of factors that could lead to Turner features; and (4) correlation of the clinical features with the effects of specific factors. The results indicate that the clinical features in 45,X and in other female sex chromosome aberrations may primarily be determined by: (1) degree of global non-specific developmental defects caused by quantitative alteration of a euchromatic or noninactivated region; (2) dosage effect of a pseudoautosomal growth gene(s), a Y-specific growth gene(s), and an Xp-Yp homologous lymphogenic gene(s); and (3) degree of chromosome pairing failure in meiocytes that are destined to develop as oocytes in the absence of SRY.

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

    Tsutomu Ogata & Nobutake Matsuo

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Ogata, T., Matsuo, N. Turner syndrome and female sex chromosome aberrations: deduction of the principal factors involved in the development of clinical features. Hum Genet 95, 607–629 (1995). https://doi.org/10.1007/BF00209476

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