Skip to main content

Table 2 Summary of VWS cases with deletion ≥ 1 Mb

From: De novo 2.3 Mb microdeletion of 1q32.2 involving the Van der Woude Syndrome locus

Case reference Family history Size Additional phenotpye Developmental delay
Bocian & Walker [10] No Microscopic Facial dysmorphism, skeletal abnormality, hypotonia Yes
VWS1473 [7, 11] Yes ~ 1 Mb Other disabilities* Yes
VWS771 [7] Yes 1–2 Mb None reported No
Salahshourifar et al. [12] No ~2.98 Mb Dysmorphism, growth retardation No
This report No ~2.33 Mb None No
  1. *family members were reported as having slow perceptive faculty, one died for unknown reasons, another incapable of speech.