Down''s Syndrome with 47,XX,+21/47,XX,+mar Mosaicism |
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| Authors: | Felice M. Weber Robert S. Sparkes Helga Muller |
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| Affiliation: | Department of Pediatrics, UCLA School of Medicine, Los Angeles, California 90024, USA;Department of Medicine, UCLA School of Medicine, Los Angeles, California 90024, USA;Department of Psychiatry, UCLA School of Medicine, Los Angeles, California 90024, USA |
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| Abstract: | A four-year-old girl with typical Down's syndrome is described. She has 47,XX,+21 karyotype in skin and lymphocytes and 47,XX,+mar karyotype in some lymphocytes. Autoradiography and fluorescent analyses have failed to identify the +mar chromosome which has the appearance of a `D' chromosome but which may involve a translocation to a chromosome No. 21. However, the mechanisms of its formation and its significance are not certain. |
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