Publication: X chromosome-linked mental retardation with fragile X chromosome and macro-orchidism
X chromosome-linked mental retardation with fragile X chromosome and macro-orchidism
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Zollinger, A., Schmid, W., Vilan, J., Sorger, B., & Knoblauch, M. (1983). X chromosome-linked mental retardation with fragile X chromosome and macro-orchidism. Schweizerische Medizinische Wochenschrift, 113, 238–244.
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Abstract
Description of the first Swiss family with the new syndrome of X-linked mental retardation. The three brothers described are the first of all males traced back for four generations to be affected. In two of the brothers macroorchidism and the fragile X-chromosome were demonstrated, while the third brother died before diagnosis. As expected, the fragile X was not demonstrable in the 75-year-old mother of the three brothers.
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Zollinger, A., Schmid, W., Vilan, J., Sorger, B., & Knoblauch, M. (1983). X chromosome-linked mental retardation with fragile X chromosome and macro-orchidism. Schweizerische Medizinische Wochenschrift, 113, 238–244.