Jumping translocation in a newborn boy with dup (4q) and severe hydrops fetalis
- 15 August 1994
- journal article
- case report
- Published by Wiley in American Journal of Medical Genetics
- Vol. 52 (2), 214-217
- https://doi.org/10.1002/ajmg.1320520217
Abstract
We report on the unusual cytogenetic findings in a newborn boy with severe hydrops fetalis. He has a mosaic for 2 unbalanced chromosome rearrangements: a der(18)-t(4;18)(q31;q23) and a der(18)t(4;18)(q31;p11). As a result, this patient had a duplication of 4q31-qter in all cells, and was possibly monosomic for the distal ends of 18p and 18q, respectively in the 2 cell lines. Since in both rearrangements the same chromosome 4 segment was translocated to 2 different chromosome regions, we consider the present finding as a peculiar type of jumping translocation.Keywords
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