Microdissection of chromosome 2 - between-arm intrachromosomal insertion

被引：8

作者：

Friedrich, U

Houman, M

Sandgaard, J

Rosgaard, A

Sunde, L

机构：

[1] Aarhus Univ, Inst Human Genet, Dept Microdissect, DK-8000 Aarhus C, Denmark

[2] Aarhus Univ Hosp, Dept Clin Genet, Aarhus, Denmark

[3] Cent Hosp, Dept Obstet & Gynaecol, Holstebro, Denmark

来源：

EUROPEAN JOURNAL OF HUMAN GENETICS | 2000年 / 8卷 / 05期

关键词：

microdissection; intrachromosomal insertion; chromosome region (2)(q21q23); agangliosis;

D O I：

10.1038/sj.ejhg.5200421

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

This report describes a mother with a balanced intrachromosomal insertion of band q22 on chromosome number 2 into band p24 on the same chromosome. She had had four spontaneous abortions and two induced abortions. One foetus had a suspected obstruction of the uretero-pelvic part of the urinary tract and monosomy of band 2q22, the other foetus had anencephaly and trisomy of band 2q22. By microdissection we have generated a painting probe from the mother's abnormal short arm of chromosome 2 (der2p probe). This family specific probe will be used in future pregnancies for precise diagnosis.

引用

页码：393 / 395

页数：3

共 9 条

[1] CONGENITAL DIAPHRAGMATIC-HERNIA, COARSE FACIES, AND ACRAL HYPOPLASIA - FRYNS SYNDROME [J].