Incidence of low-fluorescence alpha satellite region on chromosome 21 escaping detection of aneuploidy at interphase by FISH

P J Bossuyt; M N Van Tienen; L De Gruyter; V Smets; J Dumon; J G Wauters

doi:10.1159/000133914

Incidence of low-fluorescence alpha satellite region on chromosome 21 escaping detection of aneuploidy at interphase by FISH

Cytogenet Cell Genet. 1995;68(3-4):203-6. doi: 10.1159/000133914.

Authors

P J Bossuyt¹, M N Van Tienen, L De Gruyter, V Smets, J Dumon, J G Wauters

Affiliation

¹ Department of Medical Genetics, University of Antwerp-U.I.A. Wilrijk, Belgium.

PMID: 7842737
DOI: 10.1159/000133914

Abstract

Aneuploidy detection for chromosome 21 by fluorescence in situ hybridization (FISH) to interphase nuclei using a probe specific for the alphoid DNA sequences D21Z1/D13Z1 should be avoided. An extreme heteromorphism, resulting in misdiagnosis if interphase FISH is the only test employed, may be far more frequent (4/101) than expected.

MeSH terms

Aneuploidy*
Chromosomes, Human, Pair 21*
Humans
In Situ Hybridization, Fluorescence
Interphase / genetics