Translocation (13q21q) |
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Authors: | Margareta Mikkelsen A Hansson Petrea Jacobsen N Hobolth |
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Institution: | (1) John F. Kennedy Institute, Glostrup, Denmark;(2) Institute of Genetics, University of Lund, Lund, Sweden;(3) Cytogenetic Department, Brejning Institute for Research in Mental Retardation, Brejning, Børkop, Denmark;(4) Pediatric Department, Kolding Hospital, Kolding, Denmark |
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Abstract: | Summary A (13q21q) translocation was found in an infant with Down's syndrome. The 17-year-old mother and the grandmother carried the translocation 45,XX,t(13;21)(p12;q11). The great grandparents had normal karyotypes. Fluorescence marker studies suggested that the translocation originated in the great grandmother. The hypothesis was supported by satellite association studies which showed a significant excess of 13–21 and 13–15 associations in the great grandmother. |
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