Non-fluorescent Y chromosome in a male infant with Turner's symptoms and XO/XY mosaicism |
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Authors: | Christa Fonatsch Sibylle D. Flatz R. Freyman |
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Affiliation: | Institut für Genetik, W. Germany;Kinderklinik, Medizinische Hochschule, Hannover, W. Germany |
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Abstract: | A 45,X/46,XY mosaicism was found in a male infant with stigmata of Turner's syndrome but normal male external genitalia. In contrast to the Y chromosome of his father, the Y chromosome of the patient does not display either the characteristic brilliant fluorescence or the typical dark heterochromatin staining of the distal long arm. Furthermore, DNA replication in the abnormal Y chromosome was shown to be premature. Mechanisms leading to the observed abnormalities are discussed. |
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