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Case Reports
Trisomy 9 Mosaicism with Multiple Congenital Anomalies
  1. Robert H. A. Haslam,
  2. Stuart P. Broske,
  3. Charleen M. Moore**,
  4. George H. Thomas,
  5. Catherine A. Neill
  1. Department of Pediatrics, The Johns Hopkins School of Medicine, USA
  2. Department of Neurology, The Johns Hopkins School of Medicine, USA
  3. Department of Medicine, The Johns Hopkins School of Medicine, USA
  4. The John F. Kennedy Institute, Baltimore, Maryland, USA

    Abstract

    A nine-year-old male with developmental abnormalities was found to be mosaic for an extra No. 9 chromosome (46,XY/47,XY,+9). The clinical findings included severe mental retardation, peculiar facies, short stature, hypotonia, dextroposition with a ventricular septal defect, and patent ductus arteriosus, as well as significant abnormalities of the brain.

    https://doi.org/10.1136/jmg.10.2.180

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      Footnotes

      • ↵** Present address: Department of Pediatrics, University of Texas Medical School at Houston, Freeman Building, Texas Medical Center, Houston, Texas 77025, USA.

      • ↵* This work was supported in part through project 917, Maternal and Child Health Service, Department of Health, Education, and Welfare.

        Reprint requests to Dr R. H. A. Haslam, The John F. Kennedy Institute, 707 North Broadway, Baltimore, Maryland 21205, USA.