Partial-trisomy syndromes |
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| Authors: | Klaus Patau Eeva Therman Stanley L. Inhorn David W. Smith Aubrey L. Ruess |
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| Affiliation: | (1) Departments of Medical Genetics, Pathology and Pediatrics, University of Wisconsin Medical School, Madison, Wisconsin;(2) Department of Psychiatry, University of Illinois College of Medicine, Chicago, Illinois |
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| Abstract: | Summary One of the autosomes of the C group (6–12), C , can sometimes be identified by a secondary constriction.A mother and her daughter, both afflicted with the oral-facialdigital (OPD) syndrome, are shown to be partially trisomic for an inner segment of C, this segment having been inserted into chromosome 1. The other chromosome 1, the two chromosomes C, and the rest of the complement of 46 chromosomes appear normal.In four other OFD patients no chromosomal abnormality was detected. Nonetheless, it is concluded that the OFD syndrome is generally caused by partial trisomy for a specific region of C. The presence of the inserted extra segment would usually escape microscopical detection.The present work was supported by grant C-3313 from the U.S. Public Health Service. |
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