Figure 3

Case 8: array-based comparative genomic hybridization (aCGH) shows a gain of ~5.4 Mb from chromosome 19q12q13.12 (arrow). In addition, there is a gain of at least 1 Mb from chromosome band 19q13.2q13.31 (arrow), including at least three adipose tissue homeostasis and insulin resistance genes (http://genome.ucsc.edu, HG 19). A partial G-banded karyotype of chromosome 19 pair and the marker. FISH using probes RP11-671P13 from chromosome 19q13.11 and probe RP11-980G2 from chromosome 19q13.2 hybridized to the marker (gray arrows) and gave three signals in interphases. The centromere of chromosome 19 probe showed an additional FISH signal on the supernumerary marker chromosome (gray arrow). Case 9: aCGH shows a complex set of rearrangements on chromosome 20 (arrows). The first imbalance is a 2.6 Mb deletion of virtually the entire 20p12.2 band involving JAG2 associated with Alagille syndrome (arrow). The second imbalance is a 2.6 Mb duplication of 20p12.2p12.1 (arrow). There is also a 634 kb duplication in 20p12.1 (arrow). Finally, there is a 2.6 Mb duplication in the pericentromeric region of the long arm of chromosome 20q11.21 (arrow). A partial karyotype of chromosome 20 pair and the marker chromosome. Metaphase FISH performed with probes targeted to 20p12.1 (RP11-426N21) [SG], 20p12.2 (RP11-2E8), [SG], 20q11.21 (RP11-822E15) [SO], and the centromere (D20Z1) [SO] showed that this patient carries a derivative chromosome 20 with a deletion in 20p12.2 (lower metaphase, short arrow). Furthermore, the 20p12.1 duplication by array was seen as a larger signal (upper metaphase, short arrow) in metaphases and was confirmed in interphases to be a tandem duplication. The centromere on the supernumerary marker chromosome was derived from chromosome 20 (upper metaphase, long arrow). The imprinted GNAS gene is not included in the marker. Case 10 A SMC was from 8p11.1p11.2 seen by aCGH (arrow) and confirmed by RP11-910J4 [SO] (8p11.2) as a smaller or a larger duplicated signal in metaphases and as 3 or 4 red signls in interphases. SG, spectrum green; SO, spectrum orange.