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Monosomy 1pter

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Summary

A unique case of terminal rearrangement (1p;21p) is described in a mentally retarded and grossly malformed 4-year-old female patient. Although no chromosomal loss was demonstrated at 1p the patient's phenotype is discussed on the basis of a possible minimal 1p deletion.

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Authors and Affiliations

  1. Sección de Genética Humana, Departmento de Morfología, Facultad de Medicina, Universidad Nacional de Colombia, Bogotá, Colombia

    Emilio Yunis, Luis Quintero & Myriam Leibovici

Authors
  1. Emilio Yunis
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  2. Luis Quintero
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  3. Myriam Leibovici
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Yunis, E., Quintero, L. & Leibovici, M. Monosomy 1pter. Hum Genet 56, 279–282 (1981). https://doi.org/10.1007/BF00274679

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  • DOI: https://doi.org/10.1007/BF00274679

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