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A 45,X/69,XXY fetus
Authors:David R. Betts  Claudine N. Fear  Teresa Barby  Mary J. Seller
Affiliation:Division of Medical and Molecular Genetics, United Medical School of Guy's Hospital, London, UK.
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.
Keywords:mosaicism    sex chromosomal mosaicism    triploidy    Turner's syndrome
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