TABLE III:

Results of the cytogenetic analysis and chromosome breakage in the reported patients with WBS.

	Van der Lelij et al., 2010a (N=1)	Van der Lelij et al., 2010b (N=1)	Capo-Chichi et al., 2013 (N=3 siblings)	Bailey et al., 2015 (N=1)	Eppley et al., 2017 (N=2 siblings)	This study (Patients 1 and 2)
Tissue	Lymphocytes	Lymphocytes and fibroblasts	Lymphocytes	Lymphocytes	Lymphocytes	Lymphocytes
Clastogenic Agent	MMC	MMC	MMC	DEB	DEB	MMC and DEB
Final Concentration in Culture	150nM (0.05 μcg/mL)	300nM (0.1 μcg/mL)	9nM (0.003μcg/mL)	NA	0.1 μcg /mL	0.1 μcg /mL
Exposure Time	48 hr	72 hr	24 hr	NA	NA	72 hr (MMC) 48 hr (DEB)
Elevated Induced Chromosome Break	+	+	+	+	+	−
Elevated Spontaneous Chromosome Break	−	−	−	−	−	−
Metaphases with PCS	50-60%	79-98%	Patient 1: 46.5% Patient 3: 44% (2/2)	+	NA	Patient 1: 100% Patient 2: 100% (2/2)