Homozygous paracentric inversion 12 in a mentally retarded boy: a case report and review of the literature |
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| Authors: | Hilary A Price Selwyn H Roberts K Michael Laurence |
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| Institution: | (1) Regional Cytogenetics Unit, Child Health Laboratories, Department of Child Health, University Hospital of Wales, Heath Park, CF4 4XW Cardiff, Wales UK |
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| Abstract: | Summary A mentally retarded male was found to be homozygous for a paracentric inversion of the long arm of chromosome 12(inv(12)(q21.1q23.2)). His parents, who are first cousins, and his phenotypically normal younger brother are inversion heterozygotes. Homozygous structural rearrangements are discussed and cases of paracentric inversions, including a further nine previously unpublished, are reviewed. |
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