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Case Reports
Double Autosomal Trisomy and Mosaicism for Chromosomes No. 8 and No. 21
  1. Miriam G. Wilson,
  2. Atsuko Fujimoto,
  3. Omar S. Alfi
  1. Genetics Division, Department of Pediatrics of the University of Southern California, School of Medicine, Los Angeles County—, California, USA
  2. University of Southern California Medical Center and Children's Hospital of Los Angeles, California, USA

    Abstract

    This patient was found to have a previously unreported double trisomy for chromosomes No. 8 and No. 21. She was recognized to have Down's syndrome at birth, and her subsequent development was consistent with that diagnosis. Her general health was good and there were no features suggesting an additional chromosomal abnormality. At this time there is no clearly recognized phenotype associated with trisomy 8.

    Two non-disjunctional events, occurring in meiosis and/or post-zygotic mitosis, are possible explanations of the chromosomal abnormalities found in this patient.

    https://doi.org/10.1136/jmg.11.1.96

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      Footnotes

      • ↵* This study was supported in part by Grants No. 286 and No. 422 from the Maternal and Child Health Services, United States Public Health Service.