PMC3168152_01
Partal karyotype showing t(9;12) in mother and partial trisomy on 9p in proband
IJHG-13-33-g001.jpg
PMC3168152_01_IJHG-13-33-g001.jpg
F1
Father was cytogenetically normal and mother was carrier of reciprocal translocation involving Chromosomes 9 and 12 [Figure 1].
FISH with centromere probe for Chromosome 9 showing deleted p arm on Chromosome 9 in mother
IJHG-13-33-g002.jpg
PMC3168152_01_IJHG-13-33-g002.jpg
F2
Hence the proband was trisomic for 9p12.1   pter region [Figure 2a and b].