1. Array CGH results: (A) Rearrangement pattern at 22q13: the profile of chromosome 22 shows a terminal deletion of 8.4 Mb at 22q13.2q13.3 (chr23: 42 817 697–51 219 009 bp) and two duplications at 22q13.1q13.2 (shaded in blue).
Array CGH results: (A) Rearrangement pattern at 22q13: the profile of chromosome 22 shows a terminal deletion of 8.4 Mb at 22q13.2q13.3 (chr23: 42 817 697–51 219 009 bp) and two duplications at 22q13.1q13.2 (shaded in blue). (B) Enlargement of 22q13.1q13.2 showing the normal copy region of 1.1 Mb between two duplicated portions of 2.4 Mb (chr22: 39 106 714–41 497 969 bp) and 148 Kb (ch22: 42 663 298–42 810 963 bp).
Nehir Kurtas et al. J Med Genet 2018;55:
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