A 45,X/69,XXY fetus |
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Authors: | David R. Betts Claudine N. Fear Teresa Barby Mary J. Seller |
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Affiliation: | Division of Medical and Molecular Genetics, United Medical School of Guy's Hospital, London, UK. |
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Abstract: | Post-mortem examination of a 20-week fetus showed incompletely masculinised external genitalia, hypoplastic adrenal glands and minor physical stigmata suggestive of a chromosome abnormality. Gonad and skin were karyotyped and both were found to contain two cell lines, 45,X and 69,XXY. It appears this fetus is a true 45,X/69,XXY mosaic. |
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Keywords: | mosaicism sex chromosomal mosaicism triploidy Turner's syndrome |
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