Diamond-Blackfan anaemia in a girl with a de novo balanced reciprocal X;19 translocation

被引：43

作者：

Gustavsson, P

Skeppner, G

Johansson, B

Berg, T

Gordon, L

Kreuger, A

Dahl, N

机构：

[1] UNIV UPPSALA,CHILDRENS HOSP,DEPT CLIN GENET,S-75185 UPPSALA,SWEDEN

[2] UNIV UPPSALA,CHILDRENS HOSP,DEPT PAEDIAT,S-75185 UPPSALA,SWEDEN

[3] OREBRO REG HOSP,DEPT PAEDIAT,OREBRO,SWEDEN

[4] VASTERAS CTY HOSP,DEPT PAEDIAT,VASTERAS,SWEDEN

[5] UNIV LUND HOSP,DEPT CLIN GENET,S-22185 LUND,SWEDEN

[6] LAWRENCE LIVERMORE NATL LAB,LIVERMORE,CA

来源：

JOURNAL OF MEDICAL GENETICS | 1997年 / 34卷 / 09期

关键词：

Diamond-Blackfan anaemia; balanced X; 19; translocation; fluorescence in situ hybridisation; chromosome band 19q13;

D O I：

10.1136/jmg.34.9.779

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

A 7 year old girl is described with congenital hypoplastic anaemia (Diamond-Blackfan anaemia, DEA) and an apparently balanced reciprocal translocation, 46,XY,t(X;19) (p21;q13). The girl has associated features including short stature, unilateral kidney hypoplasia, and a branchial cyst. Fluorescent in situ hybridisation (FISH) studies with 19q specific cosmids showed that the chromosome 19 breakpoint is located between the RYR1 and the XRCC1 loci spanning a physical region of 5 Mb. There is no family history of DBA and the parents and two healthy sibs have normal karyotypes. This is the first report of a balanced translocation associated with DBA and we suggest that the distinct phenotype has resulted from a de novo disruption of a functional gene. DBA can be inherited as an autosomal trait and our observation may indicate a candidate gene for the disorder in the 19q13 region.

引用

页码：779 / 782

页数：4

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