IDENTIFICATION OF A CRYPTIC T(5 7) RECIPROCAL TRANSLOCATION BY FLUORESCENT INSITU HYBRIDIZATION

被引：8

作者：

BERNSTEIN, R ^{[1
]}

BOCIAN, ME ^{[1
]}

CAIN, MJ ^{[1
]}

BENGTSSON, U ^{[1
]}

WASMUTH, JJ ^{[1
]}

机构：

[1] UNIV CALIF IRVINE,DEPT BIOL CHEM,IRVINE,CA 92717

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS | 1993年 / 46卷 / 01期

关键词：

CRI-DU-CHAT SYNDROME; PRENATAL DIAGNOSIS; BIOTINYLATED PROBE;

D O I：

10.1002/ajmg.1320460113

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Fluorescent in situ hybridization (FISH) identified a cryptic balanced reciprocal translocation in the mother of an infant with the cri-du-chat syndrome. A biotinylated probe from a flow-sorted chromosome 5 cosmid library was used to show the distal deletion of 5p15.2 in the propositus and a translocation of this segment to the distal end of 7 at 7p21 in his mother. In a subsequent pregnancy, the fetus was shown to have normal chromosomes using the same 5 cosmid library probe and a locus-specific probe derived from the 5p15.3 region. The importance of incorporating FISH into the routine diagnostic laboratory is discussed.

引用

页码：77 / &

共 17 条

[1]

ALTHERR MR, 1991, AM J HUM GENET, V49, P1235

[2]

BENN PA, 1987, OBSTET GYNECOL, V70, P449

[3]

BOCIAN M, 1992, CLIN RES, V40, pA28

[4]

FERGUSONSMITH MA, 1991, AM J HUM GENET, V48, P179

[5]

KUWANO A, 1991, AM J HUM GENET, V49, P707

[6]

LAMB J, 1989, LANCET, V2, P819

[7]

LEDBETTER SA, 1992, AM J HUM GENET, V50, P182

[8] DELINEATION OF INDIVIDUAL HUMAN-CHROMOSOMES IN METAPHASE AND INTERPHASE CELLS BY INSITU SUPPRESSION HYBRIDIZATION USING RECOMBINANT DNA LIBRARIES [J].

LICHTER, P ;

CREMER, T ;

BORDEN, J ;

MANUELIDIS, L ;

WARD, DC .

HUMAN GENETICS, 1988, 80 (03) :224-234

[9]

MCPHERSON JD, 1991, AM J HUM GENET, V49, P384

[10]

OVERHAUSER J, 1989, AM J HUM GENET, V45, P296

← 1 2 →