Paternal nondisjunction in trisomy 21: excess of male patients |
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| Authors: | Patersen, Michael B. Antonarakis, Stylianos E. Hassold, Terry J. Freeman, Sallle B. Sherman, Stephanie L. Avramopoulos, Dimitrios Mikkelsen, Margareta |
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| Affiliation: | Department of Medical Genetics, The John F.Kennedy Institute, DK-2600 Glostrup and Danish Centre for Human Genome Research Denmark 1Center for Medical Genetics, Departments of Pediatrics and Medicine, The Johns Hopkins University School of Medicine Baltimore, MD 21205 2Department of Genetics, Case Western Reserve University Cleveland, OH 44106 3Division of Medical Genetics, Department of Pediatrics Emory University School of Medicine Atlanta, GA 30322, USA |
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| Abstract: | Paternal nondisjunction accounts for approximately 5% of casesof trisomy 21. We have studied 36 cases of free trisomy 21,in which the supernumerary chromosome was of paternal origin,with DNA markers in the pericentromeric region and along thelong arm of chromosome 21. Fifteen of the paternal cases wereconsistent with melosis II errors, 8 with mitotic errors andonly 7 with melosis I nondisjunction. This contrasts markedlywith maternally derived trisomy 21, in which meiosis I errorspredominate. An excess of males was observed in the meloticcases (21 maies:6 females), highly significantly different froma 1.06 ratio. A significant difference in mean maternal agewas found between cases of paternal origin (28.1 years) andthose of maternal origin (31.8 years, n=429). This indicatesthat the maternal age effect is confined to maternal nondisjunction. |
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