Results of array-CGH and FISH analyses. a Array-CGH analysis shows a ~539 Kb microdeletion at 1q21.1 band inherited from the father. b FISH confirmation of a hemizygous interstitial 1q21.1 deletion using a BAC probe RP11-105E14 (chr1:145,474,158-145,636,051) (red). c Interphase FISH with RP11-105E14 (chr1:145,474,158-145,636,051) (red) on deparaffinized fetal tissue from patient II, 3. Nuclei show a unique red signal indicating the presence of the deletion. d Overview of the 1q21.1 region and its genes and LCRs contents, according to the UCSC Genome Browser (GRCh37/hg19 assembly). The bars indicate the deleted region (red) in our patient and the deleted regions in patients reported by Guastadisegni et al. , Papoulidis et al.  and Bottillo et al. .