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Possible complex translocation t(9; 14; 13)(q12;pl?;q31) in mother of a child with 9p-trisomy syndrome

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Summary

A mentally retarded boy with trisomy 9p is described. This trisomy arose through aberrant segregation of translocation chromosome during meiosis in his mother, who has a complex translocation involving chromosomes 9, 13, and 14. Based on both G-, Q-banding, and DNA replication patterns, the patient's karyotype was identified as 47,XY,-13, +(9;13) (9pter→9q12::13q31→13qter), +t(13;14) (13pter→13q31::14pl?→14pter). We suppose his mother's karyotype to be 46,XX,-9,-13,-14,+t(9;13) (9pter→q12::13q31→13qter), +t(13;14) (13pter→13q31::14pl?→14pter), +t(9;14) (9qter→9q12::14pl?→14qter). His phenotypically normal brother and sister are also carriers, having the same translocation chromosome as their mother. Clinical findings of the patient included peculiar face with hypertelorism, prominent nasal bridge and deformed helix, marked delay of osseous development, hypoplastic phalangia in fingers and toes, dysplastic nails and absence of digital triradii.

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Authors and Affiliations

  1. Department of Child Health, Faculty of Science of Living, Osaka City University, Osaka

    Hiroko Fujita & Katsuro Yamamoto

  2. Department of Medicine and Preventive Medicine, Kyoto Prefectural University of Medicine, Kyoto

    Tatsuo Abe

  3. Department of Genetics, Hyogo College of Medicine, Hyogo

    Jun-ichi Furuyama

Authors
  1. Hiroko Fujita
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  2. Tatsuo Abe
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  3. Katsuro Yamamoto
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  4. Jun-ichi Furuyama
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Fujita, H., Abe, T., Yamamoto, K. et al. Possible complex translocation t(9; 14; 13)(q12;pl?;q31) in mother of a child with 9p-trisomy syndrome. Hum Genet 25, 83–92 (1974). https://doi.org/10.1007/BF00283308

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  • DOI: https://doi.org/10.1007/BF00283308

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