Confirmation of trisomy 22 in two cases using chromosome painting: comparison with t(11;22).
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).
Slater
H R
HR
Murdoch Institute, Royal Children's Hospital, Parkville, Melbourne, Australia.
Voullaire
L E
LE
Vaux
C E
CE
Bankier
A
A
Pertile
M
M
Choo
K H
KH
D002892:Chromosomes, Human, Pair 22; D015342:DNA Probes; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007231:Infant, Newborn; D007621:Karyotyping; D014178:Translocation, Genetic; D014314:Trisomy
D015342:DNA Probes