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Case Reports
Partial trisomy 12 in a mentally retarded boy and translocation (12;21) in his mother
  1. N. Hobolth,
  2. Petrea Jacobsen,
  3. Margareta Mikkelsen
  1. 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

    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.

    https://doi.org/10.1136/jmg.11.3.299

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