Incidence of low-fluorescence alpha satellite region on chromosome 21 escaping detection of aneuploidy at interphase by FISH.
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.
Department of Medical Genetics, University of Antwerp-U.I.A. Wilrijk, Belgium.
P J
PJ
Bossuyt
M N
MN
Van Tienen
L
L
De Gruyter
V
V
Smets
J
J
Dumon
J G
JG
Wauters
D000782:Aneuploidy; D002891:Chromosomes, Human, Pair 21; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007399:Interphase / Q000235:genetics