Duplication-deficiency of chromosome 18, resulting from recombination of a paternal pericentric inversion,with a note for genetic counselling |
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| Authors: | J R Teyssier F Bajolle |
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| Institution: | (1) Laboratoire de Cytogénètique, CHU de Reims, Hôpital Maison Blanche, 45 rue Cognacq-Jay, F-51100 Reims, France |
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| Abstract: | Summary A fifth case of rec(18) resulting from recombination of a paternal pericentric inversion is described. The propositus' complement includes a chromosome 18 with partial deletion of the long arm, and partial duplication of the short. The recombination risk is evaluated at 5%. The eventuality of deleterious effects of pericentric inversions is discussed. |
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