Non-Disjunction of Chromosome 18 (original) (raw)

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The John F.Kennedy Institute

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Glostrup, Denmark

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Department of Medical Genetics, Institute of Medical Biochemistry and Genetics. University of Copenhagen

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Copenhagen, Denmark

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Human Genetics, Level G, Princess Anne Hospital

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Southampton, UK

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The John F.Kennedy Institute

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Glostrup, Denmark

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Department of Genetics, Institute of Child Health, ‘Aghia Sophia’ Children's Hospital

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Athens, Greece

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Wessex Regional Genetics Laboratory, Salisbury District Hospital

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Salisbury, UK

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Department of Clinical Genetics, Aarhus University Hospital

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Aarhus, Denmark

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Department of Clinical Genetics, Aarhus University Hospital

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Aarhus, Denmark

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Department of Medical Genetics, University Hospital of Tromsø

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Tromsø, Norway

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Division de Génétique Médicale, Université de Genève

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Genève, Switzerland

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Mitera Maternity Hospital

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Athens, Greece

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The John F.Kennedy Institute

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Accepted:

06 January 1998

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Merete Bugge, Andrew Collins, Michael B. Petersen, Julia Fisher, Carsten Brandt, Jens Michael Hertz, Lisbeth Tranebjaerg, Celia de Lozier-Blanchet, Peter Nicolaides, Karen Brøndum-Nielsen, Newton Morton, Margareta Mikkelsen, Non-Disjunction of Chromosome 18, Human Molecular Genetics, Volume 7, Issue 4, April 1998, Pages 661–669, https://doi.org/10.1093/hmg/7.4.661
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Abstract

A sample of 100 trisomy 18 conceptuses analysed separately and together with a published sample of 61 conceptuses confirms that an error in maternal meiosis II (MII) is the most frequent cause of nondisjunction for chromosome 18. This is unlike all other human trisomies that have been studied, which show a higher frequency in maternal meiosis I (MI). Maternal MI trisomy 18 shows a low frequency of recombination in proximal p and medial q, but not the reduction in proximal q observed in chromosome 21 MI non-disjunction. Maternal MII non-disjunction does not fit the entanglement model that predicts increased recombination, especially near the centromere. Whereas recent data on MII trisomy 21 show the predicted increase in recombination proximally, maternal MII trisomy 18 has non-significantly reduced recombination. Therefore, chromosome-specific factors must complicate the simple model of susceptible chiasma distributions interacting with age-dependent deterioration of the meiotic mechanism. For chromosome 18, 30% of tetrads are nullichiasmate in maternal MI non-disjunction, but nullichiasmates are not observed in maternal MII non-disjunction. Chiasma distributions from normal chromosome 18 meioses provide no evidence for normal disjunction from nullichiasmate tetrads. We extend this study to examine the remaining autosomes and find no evidence for normal disjunction from nullichiasmate tetrads generally.

© 1998 Oxford University Press

Topic:

• down syndrome
• centromere
• chromosomes
• chromosomes, human, pair 18
• chromosomes, human, pair 21
• meiosis
• mothers
• recombination, genetic
• trisomy
• chiasma
• edward's syndrome

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