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. Author manuscript; available in PMC: 2022 May 9.
Published in final edited form as: Am J Med Genet A. 2021 Jun 1;185(10):2903–2912. doi: 10.1002/ajmg.a.62368

Figure 2. Chromosomal microarray analysis (CMA) showing gain of long arm of chromosome 16 consistent with 16q duplication.

Figure 2.

(A) Array CGH plot of the proband showing the copy number gain of 16q12.2q24.3 with magnified view of copy number gain on chromosome 16. (B) depicts partial high resolution chromosome analysis, with derivative chromosome 22, with an extra copy of 16q12.2→qter attached to 22p11.2. (C) Maternal chromosome analysis showing the reciprocal translocation between chromosomes 16 and 22.