A 48,XXY,+21 Down syndrome patient with additional paternal X and maternal 21 |
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| Authors: | Isabel Lorda-Sanchez Michael B Petersen Franz Binkert Marco Maechler Werner Schmid Patricia A Adelsberger Stylianos E Antonarakis Albert Schinzel |
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| Institution: | (1) Institut für Medizinische Genetik der Universität, Raemistrasse 74, CH-8001 Zürich, Switzerland;(2) Center for Medical Genetics, Department of Pediatrics, The Johns Hopkins University School of Medicine, 21205 Baltimore, MD, USA |
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| Abstract: | Summary The origin of meiotic nondisjunction of the extra chromosomes X and 21 was studied in a patient with the karyotype 48,XXY,+21 using DNA polymorphisms. The extra chromosome X was the result of paternal first meiotic nondisjunction of X and Y. The extra chromosome 21 was derived from the mother. The meiotic error in the mother most probably occurred in meiosis II. Thus, this is a combination caused by the chance occurrence of two independent events. |
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