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Case Reports
. 2011 Jun;155A(6):1465-8.
doi: 10.1002/ajmg.a.33935. Epub 2011 May 12.

Identification of complex chromosome 18 rearrangements by FISH and array CGH in two patients with apparent isochromosome 18q

Amy M Breman  1 , Frank J Probst, Maria A Blazo, Christian P Schaaf, Erin K Roney, William J Craigen, Carlos A Bacino, Sau Wai Cheung
Affiliations
Case Reports

Identification of complex chromosome 18 rearrangements by FISH and array CGH in two patients with apparent isochromosome 18q

Amy M Breman et al. Am J Med Genet A. 2011 Jun.
No abstract available

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Figures

FIG. 1
FIG. 1
Partial karyotypes and ideograms of the three family members included in Case 1. Red and green highlighted areas on the ideograms correspond to FISH probes in (e). a: Initial low-resolution chromosomes 18 from Patient 1. b: Maternal chromosomes 18 showing a pericentric inversion of one chromosome 18 at bands 18p11.31 and 18q12.2. Red arrows point to proposed inversion breakpoints. c: Patient 1 and his sibling (d) each have one normal chromosome 18 and one complex chromosome 18 made up of one q arm and one arm consisting of the proximal portion of 18p from 18p11.31 to the centromere and the distal portion of 18q from 18q12.2 to qter. e: FISH analysis for patient 1 using probes RP11-193E15 (18p11.31, red, coordinate 2.9–3.1 Mb), RP11-540M4 (18q11.2, green, coordinate 21.3–21.5 Mb), and D18Z1 (cen18, aqua). The normal chromosome 18 is shown in the inset
FIG. 2
FIG. 2
Array CGH analysis of Patient 2. a: Whole genome plot (left) depicting gain in copy number at 18p11.32-p11.31 and 18q12.3-q23. The enlarged segment of both 18p11.32-p11.31 (~5 Mb) and 18q12.3-q23 (38.7 Mb) is shown on the right. Each point represents a 60mer oligonucleotide clone on the array. The gain on 11q25 (0.2–0.7 Mb, arrowhead) is a known CNV. b: Chromosome 18 ideogram showing regions of duplication in green.
FIG. 3
FIG. 3
Cytogenetic and FISH analyses of Patient 2. a: Partial karyotype showing the normal chromosome 18 and the derivative 18 (arrows). b: Interphase FISH using probes RP11-183C12 (18p11.31, green, 4.4–4.6 Mb) and RP11-838N2 (18p11.31, red, 3.3–3.5 Mb) shows the adjacent duplicated regions of 18p11.31. c,d: Metaphase FISH analysis using probes RP11-183C12 (green) and RP11-687E1 (18q12.3, red, 37.8–37.9 Mb) show the junction of band 18p11.32 with band 18q12.3 on the duplicated long arm. The centromere is detected with a D18Z1 centromere probe (aqua) in (c). The subtelomere region 18q23 (RP11-90L3, 73.4–73.6 Mb) is detected in orange in (d).
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