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Fig. 3 | Molecular Cytogenetics

Fig. 3

From: The segregation of different submicroscopic imbalances underlying the clinical variability associated with a familial karyotypically balanced translocation

Fig. 3

Microdeletion at 2p14 detected in two family members, and previously described overlapping deletions. (a) a-CGH (60 K, Agilent): Probes within a 1.24 Mb segment at 2p14 (chr2:65,237,764-66,484,321) were deleted in the proband’s affected brother (III-3). (b, c) FISH probe RP11-263L17 (red signal) from the deleted segment, hybridized to one chromosome 2 only, (b) confirming the deletion in II-3 and (c) showing that it was also present in III-6, the affected uncle of the proband. (d) The UCSC profile of the 2p15p14 region depicts the deletion identified by a-CGH, which was extended to a 1.42 Mb interval by MPS (chr2:66,646,777-65,220,481) (red). Seven overlapping microdeletions (red bars) associated with mild intellectual disability and minor dysmorphic features were previously reported [3032]. The CEP68, RAB1A and ACTR2 genes which maps to the minimal overlapping deletion interval are candidates for the intellectual impairment in the 2p14p15 microdeletion syndrome

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