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

Figure 2

The schematic diagram of the normal and derivative of chromosome 2 with breakpoints and structural and copy number variants. (a) Normal chromosome 2: The breakpoints were reviewed for gene disruption; 4 out of 5 breakpoints interrupted intronic regions of different genes not associated with a known disease phenotype at the present time. One of the breakpoints interrupted the intergenic region between NDUFA10 and LOC150935 long noncoding RNA genes. (b) The derivative of chromosome 2: The CNVs and inversions on the structurally rearranged chromosome 2. The two duplicated segments were found to be in an inverted orientation (black arrows), one of them was an inverted translocation from the p-terminal to the q-terminal region (blue segment 2p25.3-p25.1 region) and the other was a tandem inverted duplication (yellow segment 2q35-q37). Two deletions (red segments 2q37.2q37.3 and 2q37.3q37.3) were separated by an inverted copy neutral region (green segment 2q37.3 region). (c) The CNVs were reviewed for the number of protein-coding genes, OMIM genes, and OMIM Morbid genes. No triplosensitive or haploinsufficient genes were found in the duplicated and deleted regions, respectively.

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