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. 2022 Apr 7;30(6):712–720. doi: 10.1038/s41431-022-01094-x

Fig. 4. Proposed mechanism to explain the chromosomal rearrangements observed in the two patients.

Fig. 4

The SDs are represented by colored rectangles. The SH2B1 gene is represented by a yellow star. A recombination at a distal SD (udSD) between sister chromatids would have allowed the formation of a transient dicentric chromosome 16 for both patients. This event may have occurred during either pre-meiotic S-phase to correct a double-strand break (DSB) or the pachytene stage of the first meiotic prophase. The acentric fragment is lost. A NAHR between the SDs BP1–BP3 for patient 1 and the SDs BP1–BP2 for patient 2 could lead to the formation of 3 copies of udSD-BP1 region in a direct-inverted-direct orientation and two copies of the regions BP1–BP3 or BP1–BP2 for patient 1 and 2, respectively, in a direct orientation. The positions and orientations of the triplicated and duplicated segments are represented by black-dotted arrows and black arrows, respectively. The dicentric segment is presumed to be lost.