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. Author manuscript; available in PMC: 2021 May 17.
Published in final edited form as: Clin Genet. 2020 Jan 27;97(5):736–740. doi: 10.1111/cge.13702

Figure 2.

Figure 2.

Female subject with a somatic PIK3CA p.D350G variant. Age 15 years with diffuse CMs (capillary malformations) involving her trunk (A, B) and extremities (C, D) and a diagnosis of DCMO (diffuse capillary malformation with overgrowth). She had overgrowth of the left side of her body, as well as syndactyly and lymphedema of the left lower extremity. (E) MR (magnetic resonance) of the face illustrates overgrowth and subcutaneous adipose excess of the left side. MR image of the legs exhibits subcutaneous fat overgrowth of the left lower extremity. ddPCR (droplet digital polymerase chain reaction) graphs of skin (F) VAF (variant allele frequency) 29% and subcutaneous adipose (G) VAF 16%. Left upper blue droplets contain variant alleles. Right middle orange droplets have variant and wild-type alleles. Right lower green droplets contain wild-type alleles. Left lower black droplets are empty.