INTERSTITIAL DELETION 8P21.3-]P23.1 IN A 6-YEAR-OLD GIRL

被引：5

作者：

MORRISON, PJ

JONES, J

NEVIN, NC

机构：

[1] BELFAST CITY HOSP,DEPT MED GENET,REG CYTOGENET LAB,FLOOR A,BELFAST CITY HOSP TOWER,LISBURN RD,BELFAST BT9 7AB,NORTH IRELAND

[2] QUEENS UNIV BELFAST,DEPT MED GENET,BELFAST BT7 1NN,ANTRIM,NORTH IRELAND

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS | 1992年 / 42卷 / 05期

关键词：

DEL(8P); NORMAL GSR; FACTOR-VII;

D O I：

10.1002/ajmg.1320420510

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We present a 6-year-old mentally retarded girl. Chromosome analysis showed an interstitial deletion of chromosome 8; 46,XX,del(8) (pter --> p23.1::p21.3 --> qter). The proposita had normal activities of glutathione synthetase reductase (GSR) and factor VII. Parental chromosomes were normal.

引用

页码：678 / 680

页数：3

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