USE OF FLUORESCENCE INSITU HYBRIDIZATION TO CONFIRM THE INTERPRETATION OF A BALANCED COMPLEX CHROMOSOME REARRANGEMENT ASCERTAINED THROUGH PRENATAL-DIAGNOSIS

被引：17

作者：

WANG, HS ^{[1
]}

MCLAUGHLIN, M ^{[1
]}

THOMPSON, C ^{[1
]}

HUNTER, AGW ^{[1
]}

机构：

[1] UNIV OTTAWA,DEPT PEDIAT,OTTAWA K1N 6N5,ONTARIO,CANADA

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS | 1993年 / 46卷 / 05期

关键词：

ALTERNATE SEGREGATION; CHROMOSOME-7; CHROMOSOME-10; AND CHROMOSOME-21; UNBALANCED CHROMOSOME CONSTITUTION; BREAK POINTS;

D O I：

10.1002/ajmg.1320460520

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

A balanced complex chromosome rearrangement (BCCR) involving 3 chromosomes with 4 breakpoints, was identified in a 36-yr-old woman who was studied because her fetus was discovered to have an unbalanced reciprocal translocation (7q;10q). Analysis of high resolution bands and the application of fluorescence in situ hybridization has identified the BCCR as der(7)t(7;10)(q21.13;q23.33)ins(21; 7)(q21.3;q11.22q21.13), der(10)t(7;10)(q21.13; q23.33), der(21)ins(21;7)(q21.3;q11.22q21.13). Alternate segregation of the BCCR appears to be favoured, and has resulted in two pregnancies with an unbalanced chromosome constitution.

引用

页码：559 / 562

页数：4

共 8 条

[1] CYTOGENETICS AND INFERTILITY IN MAN .1. KARYOTYPE AND SEMINAL ANALYSIS [J].