AN INHERITED CHROMOSOME ABERRATION IN A GIRL WITH SIGNS OF DE LANGE SYNDROME |
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| Authors: | Karl-Axel Broholm Orvar Eeg-Olofsson Bertil Hall |
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| Affiliation: | The Pediatric Clinic, University of Gothenburg, Gothenburg;The Pediatric Clinic and Institute of Genetics, University of Lund, Lund, Sweden |
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| Abstract: | A mentally retarded girl with some signs of de Lange syndrome is described. The proposita has a chromosomal aberration, inherited from her unaffected mother. One chromosome of group B and one of group D are engaged in the translocation, and the possibility of a third chromosome being involved in this rearrangement cannot be excluded. The proposita has a partial D trisomy. The variability of de Lange syndrome is discussed. |
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| Keywords: | Chromosome abnormality de Lange's syndrome genesis |
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