PMC4314806_01
PMC4314806_02
PMC4314806_03
PMC4314806_04
The results of chromosomal microarray analysis and karyotyping. Left panel: CMA scatter plot showing identical duplications in patient III-1-3 and reciprocal deletion in patient III-4 at 11q23.3-11qter. A small telomeric deletion of 10q26-qter detected in patient III-1-3. Right panel: karyotype showing the two chromosomes involved with translocation in proband's father and grandfather.
13039_2014_101_Fig3_HTML.jpg
PMC4314806_04_13039_2014_101_Fig3_HTML.jpg
Fig3
A 270 Kb terminal deletion at 10q26 chr10:135153849-135430043, NCBI build 37) was also detected in patients 1-3 and a reciprocal duplication in patient 4 (Figure 3A). G-banding techniques on stimulated blood lymphocytes and analyzed at 400-500 band resolution. G banding of the parents, at a resolution of at least 400 bands per haploid genome, the cytogenetic analysis of the father revealed a balanced translocation between the chromosome 10 and chromosome 11, the Karyotype of the proband's father and grandfather were 46, XY, t (10;11) (q26;q23), the mother showed a normal Karyotype (Figure 3B).