Trisomy of the short arm of chromosome 8: Association with translocation between chromosomes 8 and 22 46,XY,22−,t(8p22q)+ |
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| Authors: | Ira M. Rosenthal Eva Krmpotic Maureen Bocian Katarina Szego |
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| Affiliation: | Departments of Pediatrics of the Abraham Lincoln School of Medicine of the University of Illinois College of Medicine, and of Pediatrics and Pathology, Cook County Hospital and the Hektoen Institute, Chicago, Illinois;Departments of Pathology, University of Health Sciences, Chicago Medical School, and of Pathology and Experimental Pathology, Mount Sinai Hospital Medical Center, Chicago, Illinois;The Abraham Lincoln School of Medicine of the University of Illinois College of Medicine, Chicago, Illinois;Departments of Pathology and Experimental Pathology, Mount Sinai Hospital Medical Center, Chicago, Illinois |
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| Abstract: | The case of a retarded child with trisomy of the short arm of chromosome 8 associated with translocation between the short arm of chromosome 8 and the long arm of chromosome 22 is reported. Balanced translocation involving the same chromosomes was present in the mother and brother of the propositus. The specific chromosomes involved in the abnormality in this family were identified by use of fluorescence microscopy with quinacrine mustard staining, autoradiography and Giemsa banding. This appears to be the first case report of this anomaly, although trisomy of the short arm of chromosome 9 has been reported previously. |
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