Fig. 1.

SNP array results for patient 1 and his parents, and patient 2 a) The patient and his parents are run on whole genome human cytogenetics 2.7 M arrays. The patient has consecutive hemizygous deletions separated by a probeless region next to a densely probed region (marked by a black arrow) comprising numerous SNP-CP probes. b The patient was tested on Affymetrix’s 6.0 Mapping Arrays. The analysis indicated two subsequent deletions separated by a large heavily probed region. c The alignment of the deletions present in both patients is shown