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Jumping translocation in a newborn boy with dup(4q) and severe hydrops fetalis.

作者信息

Duval E, van den Enden A, Vanhaesebrouck P, Speleman F

机构信息

Department of Pediatrics, University Hospital Gent, Belgium.

出版信息

Am J Med Genet. 1994 Aug 15;52(2):214-7. doi: 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.

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