Pj. Bossuyt et al., INCIDENCE OF LOW-FLUORESCENCE A SATELLITE REGION ON CHROMOSOME-21 ESCAPING DETECTION OF ANEUPLOIDY AT INTERPHASE BY FISH, Cytogenetics and cell genetics, 68(3-4), 1995, pp. 203-206
Aneuploidy detection for chromosome 21 by fluorescence in situ hybridi
zation (FISH) to interphase nuclei using a probe specific for the alph
oid DNA sequences D21Z1/D13Z1 should be avoided. An extreme heteromorp
hism, resulting in misdiagnosis if interphase FISH is the only test em
ployed, may be far more frequent (4/101) than expected.