Constitutional Chromothripsis on Chromosome 2: A Rare Case with Severe Presentation

Figure 1

(a) Four CNVs were detected on chromosome 2: the two duplications which encompass the 2p25.3-p25.1 region (10.3 megabases (Mb) in size) and the 2q35-q37.2 (17.5 Mb) region and the two deletions which encompass the 2q37.2-q37.3 (3.9 Mb) region and the 2q37.3 (0.81 Mb) region. arr (GRCh37) 2p25.3p25.1 (0_10322310) × 3, 2q35q37.2 (219436155_236910276) × 3, 2q37.2q37.3 (236910276_240803999) × 1, and 2q37.3 (242397618_243199373) × 1. (b) Metaphase FISH analysis using probes for the four CNV regions confirmed the microarray findings. The duplication encompassing the 2p25.3-p25.1 region was found to be translocated to the terminal q-arm region of chromosome 2.

(a)

(b)