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Fig. 5 | BMC Medical Genetics

Fig. 5

From: SNP array and FISH analysis of a proband with a 22q13.2- 22qter duplication shed light on the molecular origin of the rearrangement

Fig. 5

Mechanism proposed to explain the formation of a non-reciprocal translocation of the duplicated 22q13.2-qter region. The grey triangles are short regions of microhomology. In green and red are the distal portions of the 22p and 22q arms, respectively. The picture is not to scale. a A DSB eliminates the telomere of the short arm. b The 3′end proximal to the DSB invades a homolog sequence on the q arm and induces the formation of a mono-directional replication fork. The arrow indicates the direction of the replication fork. c-d The replication proceeds until the chromosome end is reached. e The distal portion of 22q (red) is duplicated and transposed inverted on 22p. See the discussion for details

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