INVERTED TANDEM DUPLICATION OF 8P12-]P23-1 IN A CHILD WITH INCREASED ACTIVITY OF GLUTATHIONE-REDUCTASE

被引：23

作者：

NEVIN, NC

MORRISON, PJ

JONES, J

REID, MM

机构：

[1] BELFAST CITY HOSP,REG CYTOGENET LAB,BELFAST BT9 7AD,ANTRIM,NORTH IRELAND

[2] BELFAST CITY HOSP,DEPT PAEDIAT,BELFAST BT9 7AD,ANTRIM,NORTH IRELAND

来源：

JOURNAL OF MEDICAL GENETICS | 1990年 / 27卷 / 02期

关键词：

D O I：

10.1136/jmg.27.2.135

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

At least 16 cases of inversion tandem duplications of the short arm of chromosome 8 have been reported. Structural rearrangements of chromosome 8 have made it possible to localise the gene for glutathione reductase (GSR) to 8p21.1. We report here on a 16 month old boy with mental retardation with partial trisomy 8 owing to a de novo inv dup(8)(p12 → p23.1).

引用

页码：135 / 136

页数：2