The aniridia-Wilms tumor association: The critical role of chromosome band 11p13 |
| |
| Authors: | Vincent M. Riccardi Helen M. Hittner Uta Francke Jorge J. Yunis David Ledbetter Wayne Borges |
| |
| Affiliation: | 1. Kleberg Cytogenetic Laboratory and the Department of Medicine, Baylor College of Medicine, Texas Medical Center, Houston, Texas USA.;2. Department of Pediatrics, Baylor College of Medicine, Texas Medical Center, Houston, Texas USA.;3. Department of Ophthalmology, Baylor College of Medicine, Texas Medical Center, Houston, Texas USA.;4. Department of Human Genetics, Yale University, School of Medicine, New Haven, Connecticut USA.;5. Medical Genetics Division, Department of Laboratory Medicine and Pathology, University of Minnesota Medical School, Minneapolis, Minnesota USA.;6. Department of Pediatrics, Children''s Memorial Hospital, Chicago, Illinois USA. |
| |
| Abstract: | The role of del (11)(p13) as a cause of aniridia, with and without Wilms tumor, is strengthened by demonstration of this chromosome aberration in 3 patients: monozygous twin girls, both of whom have aniridia and mental retardation and one of whom has a Wilms tumor; and an unrelated boy with aniridia and ambiguous genitalia. The break points defining the interstitial deletion for the twins are 11p13 and 11p15.1, while for the boy they are 11p1302 and 11p14.1. These patients and their karyotypes substantiate the critical importance of chromosome band 11p13 (or its hemizygous representation) in the development of aniridia and an associated Wilms tumor diathesis, as had been suggested previously (Riccardi VM, Sujansky E, Smith AC, Francke U, (1978): Pediatrics 61, 604-610). |
| |
| Keywords: | Address requests for reprints to: Dr. Vincent M. Riccardi Kleberg Genetics Center Baylor College of Medicine Texas Medical Center Houston TX 77030. |
| 本文献已被 ScienceDirect 等数据库收录！ |
|
