A CHROMOSOME 21-SPECIFIC COSMID COCKTAIL FOR THE DETECTION OF CHROMOSOME-21 ABERRATIONS IN INTERPHASE NUCLEI

Citation
D. Vanopstal et al., A CHROMOSOME 21-SPECIFIC COSMID COCKTAIL FOR THE DETECTION OF CHROMOSOME-21 ABERRATIONS IN INTERPHASE NUCLEI, Prenatal diagnosis, 15(8), 1995, pp. 705-711
Citations number
25
Categorie Soggetti
Obsetric & Gynecology
Journal title
ISSN journal
01973851
Volume
15
Issue
8
Year of publication
1995
Pages
705 - 711
Database
ISI
SICI code
0197-3851(1995)15:8<705:AC2CCF>2.0.ZU;2-0
Abstract
Fluorescent in situ hybridization (FISH) with a 21q11-specific probe ( CB21c1) consisting of three non-overlapping cosmids has been applied t o interphase amniocytes of pregnancies at increased risk for fetal ane uploidy (N=78) and to interphase lymphocytes, cultured and uncultured, of patients referred for Down syndrome (N=19 and 28, respectively). I n the uncultured amniocytes, six chromosome aberrations were detected: three cases of trisomy 21, a triploidy, a de novo 46,XX,t(21q21q), an d a mosaic 46,XY/47,XY, +dic(21)(q11)/48,XY,idic(21)(q11), +del(21)(q1 1). In 15 cultured and 20 uncultured blood samples, FISH correctly dia gnosed trisomy 21 (full or mosaic) at the interphase level, which was confirmed in all cases by subsequent karyotyping. Because of specific and strong signals in interphase nuclei, CB21c1 appears to be a useful tool for the rapid detection of chromosome 21 abnormalities.