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Confirmation of trisomy 22 in two cases using chromosome painting: comparison with t(11;22)
H R Slater1, L E Voullaire, C E Vaux
1Murdoch Institute, Royal Children's Hospital, Parkville, Melbourne, Australia.
American Journal of Medical Genetics
|June 1, 1993
Abstract:
We present a nonmosaic case of trisomy 22 in a liveborn, abnormal infant and a second case of a fetus who died in utero. Both have been verified cytogenetically and confirmed by in situ hybridisation with a centromeric alphoid probe and chromosome painting. The accuracy of the combined cytogenetic and molecular cytogenetic approaches in the karyotype determination is highlighted by comparison with a case showing partial translocation of chromosome 22 in t(11;22) (q23;q11).