DELETION OF CHROMOSOME-3 AND A 3-20-RECIPROCAL TRANSLOCATION DEMONSTRATED BY CHROMOSOME PAINTING

被引：11

作者：

CRISPINO, B

CARDOSO, H

MIMBACAS, A

MENDEZ, V

机构：

[1] INST INVEST BIOL CLEMENTE ESTABLE,DIV CITOGENET,MONTEVIDEO 11600,URUGUAY

[2] UNIV REPUBL MONTEVIDEO,FAC MED,PEDIAT CLIN A,MONTEVIDEO,URUGUAY

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS | 1995年 / 55卷 / 01期

关键词：

T(3-20); DEL(3); CHROMOSOME PAINTING; CHROMOSOME ABERRATIONS;

D O I：

10.1002/ajmg.1320550109

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

The combined use of high resolution banding and chromosome painting techniques allowed us to identify a reciprocal translocation involving chromosomes 3 and 20 and simultaneous interstitial deletion of chromosome 3 in a patient with several minor anomalies of the face and hands, His karyotype is described as 46,XY,t(3;20) (p14.2;p12.2),del(3)(p11-p14.1). (C) 1995 Wiley-Liss, Inc.

引用

页码：27 / 29

页数：3

共 25 条

[1] TRISOMY 20P FROM MATERNAL T(3-20) TRANSLOCATION [J].