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Unbalanced reciprocal translocations in cases of Prader-Willi syndrome

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Summary

A case of Prader-Willi syndrome (PWS) associated with a de novo unbalanced 15q;17q reciprocal translocation presumptively resulting from the tertiary monosomic form of 3:1 meiotic disjunction is described. Twenty-three similar unbalanced translocations have been identified from the literature. The 24 karyotypes are characterised by having 45 chromosomes, monosomy for the pericentromeric region of chromosome 15 (range pter»q11 to q21), and little monosomy of the recipient (non-15) chromosome. Two-thirds of the cases with these karyotypes have phenotypic features of PWS. It seems probable that (i) where unbalanced reciprocal translocations are associated with PWS, they will almost invariably be presumptive segregants of the tertiary monosomic form of 3:1 disjunction and (ii) the majority of cases found with this type of karyotype, particularly it appears when de novo in origin, will be associated with phenotypic features of PWS.

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Authors and Affiliations

  1. Cytogenetics Unit, Leicester Royal Infirmary, Room 515, Phase III, Leicester, England, Great Britain

    David P. Duckett

  2. Cytogenetics Unit, Child Health Laboratories, Department of Child Health, University Hospital of Wales, Heath Park, Cardiff, Wales, Great Britain

    Selwyn H. Roberts & Patricia Davies

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  1. David P. Duckett
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  2. Selwyn H. Roberts
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  3. Patricia Davies
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Duckett, D.P., Roberts, S.H. & Davies, P. Unbalanced reciprocal translocations in cases of Prader-Willi syndrome. Hum Genet 67, 156–161 (1984). https://doi.org/10.1007/BF00272991

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