Human Molecular Genetics Advance Access published online on June 21, 2007
Human Molecular Genetics, doi:10.1093/hmg/ddm148
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Non-disjunction of chromosome 13
1 Wilhelm Johannsen Centre for Functional Genome Research, Department of Cellular and Molecular Medicine, University of Copenhagen, Denmark 2 Department of Medical Genetics, The John F Kennedy Institute, Glostrup, Denmark 3 Human Genetics, University of Southampton, Duthie Building (808), Southampton General Hospital, Southampton SO16 6YD, England 4 Department of Clinical Genetics, Aarhus University Hospital, Aarhus, Denmark 5 Department of Cellular and Molecular Medicine, University of Copenhagen, Denmark 6 Department of Clinical Genetics, Rigshospitalet, Copenhagen, Denmark 7 Department of Clinical Genetics, County Hospital of Vejle, Denmark 8 Department of Genetics and Microbiology, University of Geneva Scool of Medicine, Switzerland 9 Cytogenetics Laboratory, General Hospital, Chambery Cedex, France 10 Department of Medical Genetics, University Hospital of Tromsø, Norway 11 Medical Genetics Laboratory Centre, The Kennedy Institute-National Eye Clinic, Glostrup, Denmark 12 Department of Clinical Genetics, University Hospital of Odense, Odense, Denmark 13 Laboratoire de Cytogénétique, ULB-Erasme-CHU Brygman, Hôpital ULB Erasme, Bruxelles, Belgium 14 Department of Genetics, Institute of Child Health, Athens, Greece
* Corresponding author: Merete Bugge Wilhelm Johannsen Centre for Functional Genome Research, Department of Cellular and Molecular Medicine, University of Copenhagen, Denmark. Telephone: +45 35327809, telefax: +45 35327845, email: mb{at}imbg.ku.dk
Received March 30, 2007; Revised June 8, 2007; Accepted June 8, 2007
We performed a molecular study with 21 microsatellites on a sample of 82 trisomy 13 conceptuses, the largest number of cases studied to date. The parental origin was determined in every case and in 89 % the extra chromosome 13 was of maternal origin with an almost equal number of maternal MI and MII errors. The latter finding is unique among human autosomal trisomies, where maternal MI (trisomies 15, 16, 21, 22) or MII (trisomy 18) errors dominate. Of the 9 paternally derived cases 5 were of MII origin but none arose from MI errors. There was some evidence for elevated maternal age in cases with maternal meiotic origin for liveborn infants. Maternal and paternal ages were elevated in cases with paternal meiotic origin. This is in contrast to results from a similar study of nondisjunction of trisomy 21 where paternal but not maternal age was elevated. We find clear evidence for reduced recombination in both maternal MI and MII errors and the former is associated with a significant number of tetrads (33%) that are nullichiasmate, which do not appear to be a feature of normal chromosome 13 meiosis. This study supports the evidence for subtle chromosome-specific influences on the mechanisms that determine non-disjunction of human chromosomes, consistent with the diversity of findings for other trisomies.
¤ These two authors contributed equally to this work
Claes Lundsteen died on the 10 november 2003.
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