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. Author manuscript; available in PMC: 2021 Mar 15.
Published in final edited form as: Am J Med Genet C Semin Med Genet. 2019 Aug 30;181(4):693–708. doi: 10.1002/ajmg.c.31740

FIGURE 6.

FIGURE 6

Patients with BWS with (1) IC1 gain of methylation, (2) IC2 loss of methylation, (3) paternal uniparental isodisomy (pUPD11), (4) genome-wide paternal uniparental isodisomy (GWpUPD), (5) CDKN1C mutations, (6) an 11p15 anomaly (deletions or duplications), (7) an unknown subtype, (8) no genetic testing, and (9) no defect identified. (a) Patients with BWS reported by Brioude et al., 2018. (b) Patients with BWS in the BWSp cohort at the Children’s Hospital of Philadelphia. (c) Patients in the cohort with a molecularly confirmed diagnosis. (d) Patients in the cohort with positive testing in blood. (e) Patients in the cohort with positive testing in tissue