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Partial monosomy 13 as the result of a balanced translocation 3/13 pat

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Summary

In a 41/3-year-old girl we found the karyotype 45,XX,del13(pter→q12). The father showed a balanced translocation 3/13 (karyotype: 46,XY,t(3;13) (p27;q12)).

Psychological investigation of the patient revealed almost normal intelligence (DQ 91). Clinical symptoms were: low birth weight, growth retardation, dolichocephalus, microgenia, antimongoloid slant of the eyes, edema on hands and feet, strabismus convergens, clubfoot (left), slight decrease in IgA and IgM.

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References

  • Fonatsch, C., Flatz, S. D., Stendel, A.: De novo (11;13) translocation. Humangenetik28, 87–91 (1975)

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Authors and Affiliations

  1. Institut für Humangenetik und Anthropologie der Universität Erlangen-Nürnberg, Erlangen

    G. Schwanitz, M. Reither, G. Grosse, Ch. Hägele, K. -P. Grosse & U. Gutfried

  2. Universitätskinderklinik der Universität Erlangen-Nürnberg, Erlangen

    G. Schwanitz, M. Reither, G. Grosse, Ch. Hägele, K. -P. Grosse & U. Gutfried

  3. Kinderzentrum München der Aktion Sonnenschein e.V., München

    G. Schwanitz, M. Reither, G. Grosse, Ch. Hägele, K. -P. Grosse & U. Gutfried

  4. Institut für soziale Pädiatrie, München

    G. Schwanitz, M. Reither, G. Grosse, Ch. Hägele, K. -P. Grosse & U. Gutfried

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  1. G. Schwanitz
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  2. M. Reither
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  3. G. Grosse
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  4. Ch. Hägele
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  5. K. -P. Grosse
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  6. U. Gutfried
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Schwanitz, G., Reither, M., Grosse, G. et al. Partial monosomy 13 as the result of a balanced translocation 3/13 pat. Hum Genet 28, 93–96 (1975). https://doi.org/10.1007/BF00735740

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  • DOI: https://doi.org/10.1007/BF00735740

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