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Case Reports
Three Generations and Six Family Members with a t(13q15q) Chromosome
  1. Richard L. Neu,
  2. Lytt I. Gardner,
  3. Margaret L. Williams,
  4. Matthew J. Barlow**
  1. Genetic and Endocrine Unit, Department of Pediatrics, State University of New York, Upstate Medical Center, Syracuse, New York, USA

    Abstract

    A patient with the clinical features of trisomy 13 without prosencephalic defects and with a 46,XX,15-,t(13q15q)+ karyotype is reported. The translocation chromosome was present in five other phenotypically normal family members and could be traced back to the maternal grandfather.

    https://doi.org/10.1136/jmg.10.1.94

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      Footnotes

      • ↵** Major Barlow was on assignment to the Department of Pediatrics, State University of New York, Upstate Medical Center, Syracuse, NY, from the Office of the Surgeon General, United States Army Medical Corps.

      • ↵* This work was supported in part by a research grant (AM-02504) from the National Institute of Arthritis and Metabolic Diseases, US Public Health Service and by a grant from the Birth Defects Institute, New York State Department of Health, Albany, NY.