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Fig. 2 | Molecular Cytogenetics

Fig. 2

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

Fig. 2

Chromosome 5 microdeletion and microduplication detected in the proband. (a) a-CGH (105 K, Agilent): Probes within a 1.45 Mb segment at 5p15.1 were deleted (chr5: 15,097,402-16,551,445; Human GRCh37 Assembly, hg19). The UCSC profile of the region depicts the deletion identified by a-CGH, which was extended to 1.47 Mb by MPS (chr5:15,073,606-16,552,845) (red), with the four genes mapping to this segment. (b) FISH probes RP1-137K24 (red signal) and RP1-167G20 (green signal) from the deleted segment, showed signals only on the normal chromosome 5. (c) a-CGH (105 K, Agilent): Probes within a 6.63 Mb segment on 5q23.2-23.3 were duplicated (chr5: 123,798,118-130,432,974). The UCSC profile depicts the duplication identified by a-CGH, which was extended to a 6.64 Mb interval by MPS (chr5:123,790,174-130,437,756) (blue), with the 18 genes mapping to this segment. (d) The additional segment of chromosome 5 was found to be inserted into the der(22) breakpoint region, by FISH, using the probes R11-48C14 (red signal) and RP1-236L2 (green signal) from the duplicated segment. This result was confirmed by MPS analysis (Table 1 and Additional file 7: Table S4)

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Molecular Cytogenetics

ISSN: 1755-8166