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

Table 2 Summary of VWS cases with deletion ≥ 1 Mb

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

*family members were reported as having slow perceptive faculty, one died for unknown reasons, another incapable of speech.

ISSN: 1755-8166