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Case Reports
Inherited partial duplication of chromosome No. 15
  1. Atsuko Fujimoto,
  2. Joseph W. Towner,
  3. Allan J. Ebbin,
  4. Emily J. Kahlstrom,
  5. Miriam G. Wilson
  1. Genetics Division, Department of Pediatrics, University of Southern California School of Medicine and Los Angeles County-University of Southern California Medical Center, Los Angeles, California 90033, USA

    Abstract

    A boy with unusual facial appearance and mental retardation was found to have duplication for the distal half of the long arm of chromosome No. 15 and possibly deficiency for the distal end of the long arm of No. 21. The chromosome abnormality was inherited from his mother, who had a translocation involving chromosomes Nos. 15 and 21. Giemsa-banding localized the break point in chromosome No. 15 just distal to the intense band at the midportion of the long arm. The break point in chromosome No. 21 appeared to be at the distal end of the long arm. The difficulty encountered in cytogenetic analysis of the propositus with conventional staining, the importance of chromosome analysis of the parents, and the application of differential staining techniques are also presented.

    https://doi.org/10.1136/jmg.11.3.287

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      Footnotes

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