PARTIAL TRISOMY AND MONOSOMY 8P DUE TO INVERSION DUPLICATION

被引：0
|
作者：
ENGELEN, JJM
DEDIESMULDERS, CEM
FRYNS, JP
HOOVERS, JMN
ALBRECHTS, JCM
LOOTS, WJG
JACOBS, ME
HAMERS, AJH
机构：
[1] UNIV HOSP GASTHUISBERG,DEPT HUMAN BIOL,DIV HUMAN GENET,LOUVAIN,BELGIUM
[2] UNIV AMSTERDAM,ACAD MED CTR,INST HUMAN GENET,1105 AZ AMSTERDAM,NETHERLANDS
来源：
CLINICAL GENETICS | 1994年 / 45卷 / 04期
关键词：
CHROMOSOMAL DELETION; CHROMOSOME-8; CHROMOSOME PAINTING; FLUORESCENT IN-SITU HYBRIDIZATION; INVERSION DUPLICATION;
D O I：
暂无
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
Fluorescent in situ hybridization with probes specific for a chromosomal subregion and chromosome-specific libraries (chromosome painting) are important new methods for assessing chromosome rearrangements. In this paper we present four patients with additional chromosomal material on chromosome 8p who have been studied using G-banding techniques, chromosome painting and FISH with cosmid probes specific for the region 8p23.1 --> 8pter. In all cases we found a partial inversion duplication of 8p along with a deletion of the region 8p23.1 --> 8pter.
引用
收藏
页码：203 / 207
页数：5
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