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  • Translocation, t(4q−;13q+), in three generations resulting in partial trisomy of the long arm of chromosome 4 in the fourth generation

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Translocation, t(4q−;13q+), in three generations resulting in partial trisomy of the long arm of chromosome 4 in the fourth generation
  1. Helmut G. Schrott*,
  2. Sumiko Sakaguchi†,
  3. Uta Francke‡,
  4. Luigi Luzzatti†,
  5. Philip J. Fialkow**

    Abstract

    The karyotype of a child with severe mental retardation, microcephaly, minor facial anomalies, and urinary tract outflow obstruction was found to be 46,XY,13q+mat. Trypsin-Giemsa banding studies showed an inherited translocation, t(4q−;13q+), in several asymptomatic members of the family including the propositus' mother. This indicates that the propositus had partial trisomy for the distal one-third of the long arm of chromosome 4. Review of the literature suggests that urinary tract and genital anomalies may be a consistent feature of this partial trisomy.

    https://doi.org/10.1136/jmg.11.2.201

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      Footnotes

      • ↵* Department of Internal Medicine, University of Iowa, University Hospitals, Iowa City, Iowa 52240, USA.

      • ↵† Department of Pediatrics, Stanford University School of Medicine, Stanford, California 94305, USA.

      • ↵‡ Department of Pediatrics, School of Medicine, University of California at San Diego, La Jolla, California 92037, USA.

      • ↵** Departments of Medicine (Division of Medical Genetics) and Genetics, University of Washington, Seattle, Washington 98195, USA.