JUMPING TRANSLOCATION IN A NEWBORN BOY WITH DUP(4Q) AND SEVERE HYDROPS-FETALIS

Authors
DUVAL E VANDENENDEN A VANHAESEBROUCK P SPELEMAN F
Citation
E. Duval et al., JUMPING TRANSLOCATION IN A NEWBORN BOY WITH DUP(4Q) AND SEVERE HYDROPS-FETALIS, American journal of medical genetics, 52(2), 1994, pp. 214-217
Citations number
32
Categorie Soggetti
Genetics & Heredity
Journal title
American journal of medical genetics → ACNP
ISSN journal
01487299
Volume
52
Issue
2
Year of publication
1994
Pages
214 - 217
Database
ISI
SICI code
0148-7299(1994)52:2<214:JTIANB>2.0.ZU;2-L
Abstract
We report on the unusual cytogenetic findings in a newborn boy with se vere hydrops fetalis. He has a mosaic for 2 unbalanced chromosome rear rangements: a der(18)t(4;18)(q31;q23) and a der(18)t(4;18)(q31;p11). A s 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, respect ively in the 2 cell lines. Since in both rearrangements the same chrom osome 4 segment was translocated to 2 different chromosome regions, we consider the present finding as a peculiar type of jumping translocat ion. (C) 1994 Wiley-Liss,Inc.