Partial trisomy 12 in a mentally retarded boy and translocation (12;21) in his mother |
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| Authors: | N Hobolth Petrea Jacobsen and Margareta Mikkelsen |
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| Affiliation: | Pediatric Department, Kolding Hospital, DK-6000 Kolding; Brejning Institute for Research in Mental Retardation, Cytogenetic Department, Brejning, DK-7080 Berkop, and Cytogenetic Department, John F. Kennedy Institute, DK-2600 Glostrup, Denmark |
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| Abstract: | Cytogenetic studies of an infant with malformations and a peculiar appearance showed a partial trisomy of chromosome 12. The mother carried a translocation of the distal part of chromosome 12 onto the short arm of chromosome 21, with breakpoints most likely at 12q24 and 21p11. |
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