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

被引：19

作者：

DUVAL, E

VANDENENDEN, A

VANHAESEBROUCK, P

SPELEMAN, F

机构：

[1] STATE UNIV GHENT HOSP,DEPT MED GENET,B-9000 GHENT,BELGIUM

[2] STATE UNIV GHENT HOSP,DEPT PEDIAT,B-9000 GHENT,BELGIUM

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS | 1994年 / 52卷 / 02期

关键词：

HYDROPS FOETALIS; CHROMOSOME; 4; 18; 4Q TRISOMY;

D O I：

10.1002/ajmg.1320520217

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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. (C) 1994 Wiley-Liss,Inc.

引用

页码：214 / 217

页数：4

共 32 条

[1] JUMPING TRANSLOCATION OF CHROMOSOME-14 IN A SKIN SQUAMOUS-CELL CARCINOMA FROM A XERODERMA PIGMENTOSUM PATIENT [J].