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Mosaicism for ring and isopseudodicentric chromosome 13 |
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| Authors: | Holly Hutchinson-Cole Kirk A. Aleck John R. Davis Iris C. Veomett Lynn Hauck |
| Affiliation: | Departments of Pathology, Arizona Health Science Center, Tucson, Arizona;Departments of Obstetrics and Gynecology, Arizona Health Science Center, Tucson, Arizona;Department of Pediatrics, Southern Illinois University School of Medicine, Springfield, Illinois, USA |
| Abstract: | A three-month-old female infant with multiple malformations was noted on routine cytogenetic evaluation to have dicentric/ring mosaicism of chromosome 13. Additional cytogenic investigations indicated that the dicentric could be further defined as an isopseudodicentric. Unlike the double chromosome break in the more common ring 13 cases, the mechanism for isopseudodicentric/ring generation is attributed to chromosome and chromatid breaks with subsequent bridging, breaking and fusion. The phenotypic features are those of a combined duplication-deficiency of chromosome 13. |
| Keywords: | Dicentric duplication-deficiency chromosome 13 isopseudodicentric mosaicism ring chromosome 13 |