Ring chromosome 16 |
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| Authors: | Lee Neidengard Robert S Sparkes |
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| Institution: | (1) Associate Pediatrician, Tri-Counties Regional Center, 1428 Phillips Lane, Suites 203 and 204, 93401 San Luis Obispo, California, USA;(2) Division of Medical Genetics, Department of Medicine School of Medicine, University of California at Los Angeles, Los Angeles, California, USA;(3) Department of Pediatrics, School of Medicine, University of California at Los Angeles, Los Angeles, California, USA;(4) Department of Psychiatry, School of Medicine, University of California at Los Angeles, Los Angeles, California, USA |
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| Abstract: | Summary Ring chromosome 16 was found in a 33-year-old woman with mental, motor, and growth defects. Apart from a low percentage of monosomy 16 cell lines, the patient appears to have virtually all of the normal chromosome 16 genetic material at the microscopic level. Her impressive problems highlight the limitation of our ability to detect small deletions and the profound importance of the integrity of chromosome 16 in normal human development. |
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